Search results for: infectious bursal disease

Authors: Aran Abd Al Rahman

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Joubert syndrome regards as a congenital cerebellar ataxia caused by autosomal recessive carried on X chromosome. The disease diagnosed by brain imaging—the so-called molar tooth sign. Neurological signs were present from the neonatal period and include hypotonia progressing to ataxia, global developmental delay, ocular motor apraxia, and breathing dysregulation. These signs are variably associated with multiorgan involvement, mainly of the retina, kidneys, skeleton, and liver. 30 causative genes have been identified so far, all of which encode for proteins of the primary cilium or its apparatus, The purpose of our project was to detect the mutant gene (INPP5E gene) which cause Joubert syndrome. There were many methods used for diagnosis such as MRI and CT- scan and molecular diagnosis by doing ARMS PCR for detection of mutant gene that we were used in this research project. In this research for individual family which reported, the two children with parents, the two children were affected and were carrier.

Keywords: Joubert syndrome, genetic disease, Kurdistan region, Sulaimani

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Authors: Dulal Bhaumik, Fei Jie, Runa Bhaumik, Bikas Sinha

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Human brain is an amazingly complex network. Aberrant activities in this network can lead to various neurological disorders such as multiple sclerosis, Parkinson’s disease, Alzheimer’s disease and autism. fMRI has emerged as an important tool to delineate the neural networks affected by such diseases, particularly autism. In this paper, we propose mixed-effects models together with an appropriate procedure for controlling false discoveries to detect disrupted connectivities in whole brain studies. Results are illustrated with a large data set known as Autism Brain Imaging Data Exchange or ABIDE which includes 361 subjects from 8 medical centers. We believe that our findings have addressed adequately the small sample inference problem, and thus are more reliable for therapeutic target for intervention. In addition, our result can be used for early detection of subjects who are at high risk of developing neurological disorders.

Keywords: ABIDE, autism spectrum disorder, fMRI, mixed-effects model

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Authors: Anthara Vivek, Manisha Shukla, Mahesh Narayan, Prakash Narayan

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Sickle cell disease disproportionately affects sub-Saharan Africa and certain tribal populaces in India and has consequently drawn little intertest from Pharma. In sickle cell patients, adhesion of erythrocytes or reticulocytes to one another and the vessel wall results in painful ischemic episodes with few, if any, effective treatments for vaso-occlusive crises. Identification of disease-associated adhesion markers on erythrocytes or reticulocytes might inform the use of more effective therapies against vaso-occlusive crises. Increased expression of one or more of bcam, itga4, cd44, cd47, rap1a, vcam1, or icam4 has been reported in sickle cell subjects. Using the miRNet ontology knowledgebase, peripheral blood interactomes were generated by seeding various combinations of the afore-referenced mRNA. These interactomes yielded an array of miR targets. As examples, targeting hsa-miR-155-5p can potentially neutralize the rap1a-bcam-cd44-itga4-vcam1 erythrocyte/reticulocyte adhesion interactome whereas targeting hsa-miRs-103a-3p or 107 can potentially neutralize adhesion in cells overexpressing icam4-cd47-bcam-itga4-cd36. AM3380 (MIRacle™) is an off-the shelf hsa-miR-155-5p agomiR that can potentially neutralize the rap1a-bcam-cd44-itga4-vcam1 signaling axis. Phlebotomy coupled with transcriptomics represents a potentially feasible and effective precision medicine strategy to mitigate vaso-occlusive crises in sickle cell patients.

Keywords: adhesion, interactome, precision, medicine

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Authors: K. H. Reeta, Bhavana Prasher, Mitali Mukerji, Dhwani Dholakia, Sangeeta Khanna, Archana Vats, Shivam Pandey, Sandeep Seth, Subir Kumar Maulik

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Introduction Research has demonstrated a connection between coronary artery disease (CAD) and genetics. We did a deep literature mining using both bioinformatics and manual efforts to identify the susceptible polymorphisms in coronary artery disease. Further, the study sought to validate these findings in an Asian population. Methodology In first phase, we used an automated pipeline which organizes and presents structured information on SNPs, Population and Diseases. The information was obtained by applying Natural Language Processing (NLP) techniques to approximately 28 million PubMed abstracts. To accomplish this, we utilized Python scripts to extract and curate disease-related data, filter out false positives, and categorize them into 24 hierarchical groups using named Entity Recognition (NER) algorithms. From the extensive research conducted, a total of 466 unique PubMed Identifiers (PMIDs) and 694 Single Nucleotide Polymorphisms (SNPs) related to coronary artery disease (CAD) were identified. To refine the selection process, a thorough manual examination of all the studies was carried out. Specifically, SNPs that demonstrated susceptibility to CAD and exhibited a positive Odds Ratio (OR) were selected, and a final pool of 324 SNPs was compiled. The next phase involved validating the identified SNPs in DNA samples of 96 CAD patients and 37 healthy controls from Indian population using Global Screening Array. ResultsThe results exhibited out of 324, only 108 SNPs were expressed, further 4 SNPs showed significant difference of minor allele frequency in cases and controls. These were rs187238 of IL-18 gene, rs731236 of VDR gene, rs11556218 of IL16 gene and rs5882 of CETP gene. Prior researches have reported association of these SNPs with various pathways like endothelial damage, susceptibility of vitamin D receptor (VDR) polymorphisms, and reduction of HDL-cholesterol levels, ultimately leading to the development of CAD. Among these, only rs731236 had been studied in Indian population and that too in diabetes and vitamin D deficiency. For the first time, these SNPs were reported to be associated with CAD in Indian population. Conclusion: This pool of 324 SNP s is a unique kind of resource that can help to uncover risk associations in CAD. Here, we validated in Indian population. Further, validation in different populations may offer valuable insights and contribute to the development of a screening tool and may help in enabling the implementation of primary prevention strategies targeted at the vulnerable population.

Keywords: coronary artery disease, single nucleotide polymorphism, susceptible SNP, bioinformatics

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Authors: Mahdi Farajzadeh Ajirlou

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The detailed serious adverse effects raised the stresses around the safety of individuals who have gotten COVID-19 vaccines. Numerous verification referrers that disease with COV-19 causes neurological dysfunction in a significant proportion of influenced patients, where these side effects show up seriously amid the disease, and still less is known approximately the potential long-term results for the brain, where the loss of olfaction could be a neurological sign and simple indications of COVID-19. Since publishing effective clinical trial results of mRNA coronavirus disease 2019 (COVID-19) and injecting it to the volunteers in 2020, numerous reports have emerged approximately about cardiovascular complications followed by the mRNA vaccination. Vaccination-associated adenopathy could be a constant imaging finding after the organization of COVID-19 antibodies that will lead to a symptomatic problem in patients with shown or suspected cancer, in whom it may be vague from dangerous nodal inclusion. In spite of all the benefits and viability of the coronavirus infection 2019 (COVID-19) antibodies specified in later clinical trials, a few other post-vaccination side impacts, such as lymphadenopathy (LAP), were observed. Also, numerous variables, including financial conditions, have played a critical part in expanding the number of people with COVID-19 infection and also much more side effects in that country. Amid the Coronavirus widespread, Iran has been experiencing extreme sanctions, which has faced this nation with an extreme financial crisis. Additionally, with COVID-19 widespread, there was a developing concern around the abuse of imaging exams extraordinarily within the pediatric populace, which highlights the issues pointed out by this review.

Keywords: radiology, vaccines, COVID-19, side effect

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Authors: Suchithra V., Shreedhanya, Kavya Menon, Vidya Niranjan

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Skin metagenomics has a wide range of applications with direct relevance to the health of the organism. It gives us insight to the diverse community of microorganisms (the microbiome) harbored on the skin. In the recent years, it has become increasingly apparent that the interaction between skin microbiome and the human body plays a prominent role in immune system development, cancer development, disease pathology, and many other biological implications. Next Generation Sequencing has led to faster and better understanding of environmental organisms and their mutual interactions. This project is studying the human skin microbiome of different individuals having varied skin conditions. Bacterial 16S rRNA data of skin microbiome is downloaded from SRA toolkit provided by NCBI to perform metagenomics analysis. Twelve samples are selected with two controls, and 3 different categories, i.e., sex (male/female), skin type (moist/intermittently moist/sebaceous) and occlusion (occluded/intermittently occluded/exposed). Quality of the data is increased using Cutadapt, and its analysis is done using FastQC. USearch, a tool used to analyze an NGS data, provides a suitable platform to obtain taxonomy classification and abundance of bacteria from the metagenome data. The statistical tool used for analyzing the USearch result is METAGENassist. The results revealed that the top three abundant organisms found were: Prevotella, Corynebacterium, and Anaerococcus. Prevotella is known to be an infectious bacterium found on wound, tooth cavity, etc. Corynebacterium and Anaerococcus are opportunist bacteria responsible for skin odor. This result infers that Prevotella thrives easily in sebaceous skin conditions. Therefore it is better to undergo intermittently occluded treatment such as applying ointments, creams, etc. to treat wound for sebaceous skin type. Exposing the wound should be avoided as it leads to an increase in Prevotella abundance. Moist skin type individuals can opt for occluded or intermittently occluded treatment as they have shown to decrease the abundance of bacteria during treatment.

Keywords: bacterial 16S rRNA , next generation sequencing, skin metagenomics, skin microbiome, taxonomy

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Authors: Tahir Majeed, Michael Handschuh, René Meier

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Rheumatoid arthritis patients have swelling and pain at the joints of the hand. The regions where the patient feels pain also show increased body temperature. Thermal cameras can be used to detect the rise in temperature of the affected regions. To monitor the disease progression of rheumatoid arthritis patients, they must visit the clinic regularly for scanning and examination. After scanning and evaluation, the dosage of the medicine is regulated accordingly. To monitor the disease progression over time, the correlation between the images between different visits must be established. It has been observed that by using low-cost thermal cameras, the thermal measurements do not remain the same over time, even within a single scanning. In some situations, temperatures can vary as much as 2°C within the same scanning sequence. In this paper, it has been shown that although the absolute temperature varies over time, the relative difference between the different regions remains similar. Results have been computed over four scanning sequences and are presented.

Keywords: relative thermal difference, rheumatoid arthritis, thermal imaging, thermal sensors

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Authors: Sila Akhan, Muge Toygar, Murat Sayan, Simge Fidan

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Chronic viral hepatitis B, C, and D can cause hepatocellular carcinoma (HCC), cirrhosis and death. The proper treatment reduce the risk of development of HCC importantly, but not to zero point. Materials and Methods: We analysed retrospectively our chronic viral hepatitis B, C and D patients who attended to our Infectious Diseases policlinic between 2004-2018. From 589 biopsy-proven chronic hepatitis patients 3 have hepatocellular carcinoma on our follow up. First case is 74 years old patient. His HCV infection diagnosis was made 8 years ago. First treatment was pegylated interferon plus ribavirin only 28 weeks, because of HCV RNA breakthrough under treatment. In 2013 he was retreated with telaprevir, pegylated interferon plus ribavirin 24 weeks. But at the end of the therapy HCV RNA was found 1.290.000 IU/mL. He has abdominal ultrasonography (US) controls and alpha-fetoprotein (AFP) at 6 months intervals. All seemed normal until 2015 then he has an abdominal magnetic resonance imaging (MRI) and found HCC by chance. His treatment began in Oncology Clinic after verified with biopsy of HCC. And then sofosbuvir/ledipasvir was given to him for HCV 24 weeks. Sustained virologic response (SVR) was obtained. He is on cure for HCV infection and under control of Oncology for HCC. Second patient is 36 years old man. He knows his HBV infection since 2008. HBsAg and HBeAg positive; HDV RNA negative. Liver biopsy revealed grade:4, stage 3-4 according modified Knodell scoring system. In 2010 tenofovir treatment was began. His abdominal US and AFP were normal. His controls took place at 6 months intervals and HBV DNA negative, US, and AFP were normal until 2016 continuously. AFP found 37 above the normal range and then HCC was found in MRI. Third patient is 57 years old man. As hepatitis B infection was first diagnosed; he has cirrhosis and was began tenofovir as treatment. In short time he has HCC despite normal AFP values. Conclusion: In Mediterranian countries including Turkey naturally occurring pre-S/S variants are more than 75% of all chronic hepatitis B patients. This variants may contribute to the development of progressive liver damage and hepatocarcinogenesis. HCV-induced development of HCC is a gradual process and is affected by the duration of disease and viral genotype. All the chronic viral hepatitis patients should be followed up in 6 months intervals not only with US and AFP for HCC. Despite they have proper treatment there is always the risk development of HCC. Chronic hepatitis patients cannot be dropped from follow up even treated well.

Keywords: HCC, HCV, HBV, DAA

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Authors: Manik Sharma

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Understanding the anatomy and normal anatomical variations of the lower limb arterial system is undeniably important not only to understand the pathology involving the vessels of the lower limb but also as a part of endovascular intervention and surgical planning in cases that demand them as a part of treatment. There have been very few cases of duplication of SFA cited in the literature, close to six worldwide and this being the seventh case in the world and first to be reported in the Indian population. We incidentally came across this normal variant during US lower limb (US-LL) duplex scan in a patient with claudicating pain in bilateral lower limbs hence suspected of having peripheral vascular disease. It was confirmed on CT-Peripheral Angiography (CT-PA), which was done successively.

Keywords: peripheral vascular disease, claudicating pain, normal anatomical variants, endovascular intervention, duplication, CT-peripheral angiography, duplex scan, Iohexol

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Authors: Simon B. N. Thompson

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Retinoblastoma is a rare type of childhood genetic cancer that affects children worldwide. The diagnosis is often missed due to lack of education and difficulty in presentation of the tumor. Frequently, the tumor on the retina is noticed by photography when the red-eye flash, commonly seen in normal eyes, is not produced. Instead, a yellow or white colored patch is seen or the child has a noticeable strabismus. Early detection can be life-saving though often results in removal of the affected eye. Remaining functioning in the healthy eye when the child is young has resulted in super-vision and high or above-average intelligence. Technological advancement of cameras has helped in early detection. Brain imaging has also made possible early detection of neurological diseases and, together with the monitoring of cortisol levels and yawning frequency, promises to be the next new early diagnostic tool for the detection of neurological diseases where cortisol insufficiency is particularly salient, such as multiple sclerosis and Cushing’s disease.

Keywords: cortisol, neurological disease, retinoblastoma, Thompson cortisol hypothesis, yawning

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Authors: James Boag

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The needs of people with a diagnosis of dementia and their carers and families are physical, psychosocial, and psychological and begin at the time of diagnosis. There is frequently a lack of emotional support and counselling. Care- giving support is required from the presentation of the first symptoms of dementia until death. Alzheimer's disease begins decades before the clinical symptoms begin to appear, and in many cases, it remains undiagnosed, or diagnosed too late for any possible interventions to have any effect. However, if an incorrect diagnosis is given, it may result in a person being treated, without effect, for a type of dementia they do not have and delaying the interventions they should have received. Being diagnosed with dementia can cause emotional distress to the person, and physical and emotional support is needed, which will become more important as the disease progresses. The severity of the patient's dementia and their symptoms has a bearing of the impact on the carer and the support needed. A lack of insight and /or a denial of the diagnosis, grief, reacting to anticipated future losses, and coping methods to maximise the disease outcome, are things that should be addressed. Because of the stigma, it is important for carers not to lose contact with family and others because social isolation leads to depression and burnout. The impact on a carer's well- being and quality of life can be influenced by the severity of the illness, its type of dementia, its symptoms, healthcare support, financial and social status, career, age, health, residential setting, and relationship to the patient. Carer burnout due to lack of support leads to people diagnosed with dementia being put into residential care prematurely. Often dementia is not recognised as a terminal illness, limiting the ability of the person diagnosed with dementia and their carers to work on advance care planning and getting access to palliative and other support. Many carers have been satisfied with the physical support they were given in their everyday life, however, it was agreed that there was an immense unmet need for psychosocial support, especially after diagnosis and approaching end of life. Providing continuity and coordination of care is important. Training is necessary for providers to understand that every case is different, and they should understand the complexities. Grief, the emotional response to loss, is suffered during the progression of the disease and long afterwards, and carers should continue to be supported after the death of the person they were caring for.

Keywords: dementia, caring, challenges, needs

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Authors: Y. I. Tretyakova, S. G. Shulkina, T. Y. Kravtsova, A. A. Antipova, N. Y. Kolomeets

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The research aimed to assess the functional significance of tumor necrosis factor-alpha (TNF-α) gene polymorphism at the -308G/A (rs1800629) region and vascular endothelial growth factor A (VEGFA) gene polymorphism at the -634G/C (rs 2010963) region in the development of ulcerative colitis (UC), focusing on patients from the Perm region, Russia. We examined 70 UC patients and 50 healthy donors during the active phase of the disease. Our focus was on TNF-α and VEGF concentration in the blood serum, as well as TNF-α and VEGFA gene polymorphisms at the -308G/А and -634G/C regions, respectively. We found that TNF-α and VEGF levels were significantly higher in patients with severe UC and high endoscopic activity compared to those with milder forms of the disease and low endoscopic activity. These tests could serve as additional non-invasive markers for assessing mucosal damage in the large intestine of UC patients. The frequency of allele variations in the TNF-α gene -308G/A (rs1800629) revealed a significantly higher occurrence of the unfavorable homozygote AA in UC patients compared to donors. Additionally, the major allele G and the allele pair GG were more frequent in patients with mild to moderate disease and 1-2 degree of endoscopic activity than in those with severe UC and 3-4 degree of endoscopic activity (χ2=14.19; p=0.000). We also observed a mutant allele A and the unfavorable homozygote AA associated with severe progressive UC. The occurrence of the mutant allele increased the risk of severe UC by 5 times (OR 5.03; CI 12.07-12.21). We did not find any significant differences in the frequency of the CC homozygote (χ2=1.02; p=0.6; OR=1.32) and the mutant allele C of the VEGFA gene -634G/C (rs 2010963) (χ2=0.01; p=0.913; OR=0.97) between groups of UC patients and healthy individuals. However, we detected that the mutant allele C and the unfavorable homozygote CC of the VEGFA gene were associated with more severe endoscopic changes in the colonic mucosa of UC patients (χ2=25,76; р=0,000; OR=0,15). The presence of the mutant allele increased the risk of severe UC by 6 times (OR 6,78; CI 3,13–14,7). We found a direct correlation between TNF-α and VEGFA gene polymorphisms, increased production of the same factors, disease severity, and endoscopic activity (р=0.000). Therefore, the presence of the mutant allele A and homozygote AA of the TNF-α gene at the -308G/A region and the mutant allele C and homozygote CC of the VEGFA gene at the -634G/C region are associated with risks related to an unfavorable clinical course of UC, frequent recurrences, and rapid progression. These findings should be considered when making prognoses regarding the clinical course of the disease and selecting treatment strategies. The presence of the homozygote AA in the TNF-α gene (rs1800629) is considered a sign of genetic predisposition to UC.

Keywords: gene polymorphism, TNF-α, ulcerative colitis, VEGF

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Authors: Moushira Zaki, Wafaa Ezzat, Yasser Elhosary, Omnia Saleh

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Nonalcoholic fatty liver disease (NAFLD) has increased in conjunction with obesity. The accuracy of risk factors for detecting NAFLD in obese adolescents has not undergone a formal evaluation. The aim of this study was to evaluate predictors of NAFLD among Egyptian female obese adolescents. The study included 162 obese female adolescents. All were subjected to anthropometry, biochemical analysis and abdominal ultrasongraphic assessment. Metabolic syndrome (MS) was diagnosed according to the IDF criteria. Significant association between presence of MS and NAFLD was observed. Obese adolescents with NAFLD had significantly higher levels of ALT, triglycerides, fasting glucose, insulin, blood pressure and HOMA-IR, whereas decreased HDL-C levels as compared with obese cases without NAFLD. Receiver–operating characteristic (ROC) curve analysis shows that ALT is a sensitive predictor for NAFLD, confirming that ALT can be used as a marker of NAFLD.

Keywords: obesity, NAFLD, predictors, adolescents, Egyptians, risk factors, prevalence

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Authors: Hitoshi Minakuchi, Izumi Takei, Shu Wakino, Koichi Hayashi, Hiroshi Itoh

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Objectives: Among type 2 diabetics, patients with CKD(chronic kidney disease), insulin resistance, impaired glyconeogenesis in kidney and reduced degradation of insulin are recognized, and we observed different fluctuational patterns of blood sugar between CKD patients and non-CKD patients. On the other hand, non-dipper type blood pressure change is the risk of organ damage and mortality. We performed cross-sectional study to elucidate the characteristic of the fluctuation of blood glucose and blood pressure at insulin-treated diabetic patients with chronic kidney disease. Methods: From March 2011 to April 2013, at the Ichikawa General Hospital of Tokyo Dental College, we recruited 20 outpatients. All participants are insulin-treated type 2 diabetes with CKD. We collected serum samples, urine samples for several hormone measurements, and performed CGMS(Continuous glucose measurement system), ABPM (ambulatory blood pressure monitoring), brain computed tomography, carotid artery thickness, ankle brachial index, PWV, CVR-R, and analyzed these data statistically. Results: Among all 20 participants, hypoglycemia was decided blood glucose 70mg/dl by CGMS of 9 participants (45.0%). The event of hypoglycemia was recognized lower eGFR (29.8±6.2ml/min：41.3±8.5ml/min, P<0.05), lower HbA1c (6.44±0.57%：7.53±0.49%), higher PWV (1858±97.3cm/s：1665±109.2cm/s), higher serum glucagon (194.2±34.8pg/ml：117.0±37.1pg/ml), higher free cortisol of urine (53.8±12.8μg/day：34.8±7.1μg/day), and higher metanephrin of urine (0.162±0.031mg/day：0.076±0.029mg/day). Non-dipper type blood pressure change in ABPM was detected 8 among 9 participants with hypoglycemia (88.9%), 4 among 11 participants (36.4%) without hypoglycemia. Multiplex logistic-regression analysis revealed that the event of hypoglycemia is the independent factor of non-dipper type blood pressure change. Conclusions: Among insulin-treated type 2 diabetic patients with CKD, the events of hypoglycemia were frequently detected, and can associate with the organ derangements through the medium of non-dipper type blood pressure change.

Keywords: chronic kidney disease, hypoglycemia, non-dipper type blood pressure change, diabetic patients

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Authors: Atsuko Okazaki, Jurg Ott

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Some genetic diseases (‘digenic traits’) are due to the interaction between two DNA variants. For example, certain forms of Retinitis Pigmentosa (a genetic form of blindness) occur in the presence of two mutant variants, one in the ROM1 gene and one in the RDS gene, while the occurrence of only one of these mutant variants leads to a completely normal phenotype. Detecting such digenic traits by genetic methods is difficult. A common approach to finding disease-causing variants is to compare 100,000s of variants between individuals with a trait (cases) and those without the trait (controls). Such genome-wide association studies (GWASs) have been very successful but hinge on genetic effects of single variants, that is, there should be a difference in allele or genotype frequencies between cases and controls at a disease-causing variant. Frequent pattern mining (FPM) methods offer an avenue at detecting digenic traits even in the absence of single-variant effects. The idea is to enumerate pairs of genotypes (genotype patterns) with each of the two genotypes originating from different variants that may be located at very different genomic positions. What is needed is for genotype patterns to be significantly more common in cases than in controls. Let Y = 2 refer to cases and Y = 1 to controls, with X denoting a specific genotype pattern. We are seeking association rules, ‘X → Y’, with high confidence, P(Y = 2|X), significantly higher than the proportion of cases, P(Y = 2) in the study. Clearly, generally available FPM methods are very suitable for detecting disease-associated genotype patterns. We use fpgrowth as the basic FPM algorithm and built a framework around it to enumerate high-frequency digenic genotype patterns and to evaluate their statistical significance by permutation analysis. Application to a published dataset on opioid dependence furnished results that could not be found with classical GWAS methodology. There were 143 cases and 153 healthy controls, each genotyped for 82 variants in eight genes of the opioid system. The aim was to find out whether any of these variants were disease-associated. The single-variant analysis did not lead to significant results. Application of our FPM implementation resulted in one significant (p < 0.01) genotype pattern with both genotypes in the pattern being heterozygous and originating from two variants on different chromosomes. This pattern occurred in 14 cases and none of the controls. Thus, the pattern seems quite specific to this form of substance abuse and is also rather predictive of disease. An algorithm called Multifactor Dimension Reduction (MDR) was developed some 20 years ago and has been in use in human genetics ever since. This and our algorithms share some similar properties, but they are also very different in other respects. The main difference seems to be that our algorithm focuses on patterns of genotypes while the main object of inference in MDR is the 3 × 3 table of genotypes at two variants.

Keywords: digenic traits, DNA variants, epistasis, statistical genetics

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Authors: Chawarat Rotejanaprasert, Andrew Lawson

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Early detection of unusual health events depends on the ability to detect rapidly any substantial changes in disease, thus facilitating timely public health interventions. To assist public health practitioners to make decisions, statistical methods are adopted to assess unusual events in real time. We introduce a surveillance Kullback-Leibler (SKL) measure for timely detection of disease outbreaks for small area health data. The detection methods are compared with the surveillance conditional predictive ordinate (SCPO) within the framework of Bayesian hierarchical Poisson modeling and applied to a case study of a group of respiratory system diseases observed weekly in South Carolina counties. Properties of the proposed surveillance techniques including timeliness and detection precision are investigated using a simulation study.

Keywords: Bayesian, spatial, temporal, surveillance, prospective

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Authors: Tsu-Yun Chiu, Tsung-Hsueh Lu, Tain-Junn Cheng

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Background: Traditional chronic disease management did not pay attention to effects of geographic factors on the compliance of treatment regime, which resulted in geographic inequality in outcomes of chronic disease management. This study aims to examine the geographic distribution and clustering of quality indicators of diabetes care. Method: We first extracted address, demographic information and quality of care indicators (number of visits, complications, prescription and laboratory records) of patients with diabetes for 2014 from medical information system in a medical center in Tainan City, Taiwan, and the patients’ addresses were transformed into district- and village-level data. We then compared the differences of geographic distribution and clustering of quality of care indicators between districts and villages. Despite the descriptive results, rate ratios and 95% confidence intervals (CI) were estimated for indices of care in order to compare the quality of diabetes care among different areas. Results: A total of 23,588 patients with diabetes were extracted from the hospital data system; whereas 12,716 patients’ information and medical records were included to the following analysis. More than half of the subjects in this study were male and between 60-79 years old. Furthermore, the quality of diabetes care did indeed vary by geographical levels. Thru the smaller level, we could point out clustered areas more specifically. Fuguo Village (of Yongkang District) and Zhiyi Village (of Sinhua District) were found to be “hotspots” for nephropathy and cerebrovascular disease; while Wangliau Village and Erwang Village (of Yongkang District) would be “coldspots” for lowest proportion of ≥80% compliance to blood lipids examination. On the other hand, Yuping Village (in Anping District) was the area with the lowest proportion of ≥80% compliance to all laboratory examination. Conclusion: In spite of examining the geographic distribution, calculating rate ratios and their 95% CI could also be a useful and consistent method to test the association. This information is useful for health planners, diabetes case managers and other affiliate practitioners to organize care resources to the areas most needed.

Keywords: catchment area of healthcare, chronic disease management, Geographic information system, quality of diabetes care

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Authors: Abdullah A. Al Qurashi, Hattan A. Hassani, Bader K. Alaslap

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Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) is an uncommon, inheritable cardiac disorder characterized by the progressive substitution of cardiac myocytes by fibro-fatty tissues. This pathologic substitution predisposes patients to ventricular arrhythmias and right ventricular failure. The underlying genetic defect predominantly involves genes encoding for desmosome proteins, particularly plakophilin-2 (PKP2). These aberrations lead to impaired cell adhesion, heightening the susceptibility to fibrofatty scarring under conditions of mechanical stress. Primarily, ARVD/C affects the right ventricle, but it can also compromise the left ventricle, potentially leading to biventricular heart failure. Clinical presentations can vary, spanning from asymptomatic individuals to those experiencing palpitations, syncopal episodes, and, in severe instances, sudden cardiac death. The establishment of a diagnostic criterion specifically tailored for ARVD/C significantly aids in its accurate diagnosis. Nevertheless, the task of early diagnosis is complicated by the disease's frequently asymptomatic initial stages, and the overall rarity of ARVD/C cases reported globally. In some cases, as exemplified by the adult female patient in this report, the disease may advance to terminal stages, rendering therapies like Ventricular Tachycardia (VT) ablation ineffective. This case underlines the necessity for increased awareness and understanding of ARVD/C to aid in its early detection and management. Through such efforts, we aim to decrease morbidity and mortality associated with this challenging cardiac disorder.

Keywords: arrhythmogenic right ventricular dysplasia, cardiac disease, interventional cardiology, cardiac electrophysiology

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Authors: Miriam I. Jimenez-Perez, Mariana C. Orellana-Haro, Carolina Guzman-Brambila

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As part of microbiology and dietetics courses, students of medicine and nutrition analyze the main pathogenic microorganisms and perform dietary analyzes. The course of microbiology describes in a general way the main pathogens including bacteria, viruses, fungi, and parasites, as well as their interaction with the human species. We hypothesize that lack of practical application of the course causes the students not to find the value and the clinical application of it when in reality it is a matter of great importance for healthcare in our country. The courses of the medical microbiology and dietetics are mostly theoretical and only a few hours of laboratory practices. Therefore, it is necessary the incorporation of new innovative techniques that involve more practices and community fieldwork, real cases analysis and real-life situations. The purpose of this intervention was to incorporate real-world learning experiences in the instruction of medical microbiology and dietetics courses, in order to improve the learning process, understanding and the application in the field. During a period of 6 months, medicine and nutrition students worked in a community of urban poverty. We worked with 90 children between 4 and 6 years of age from low-income families with no access to medical services, to give an infectious diagnosis related to nutritional status in these children. We expect that this intervention would give a different kind of context to medical microbiology and dietetics students improving their learning process, applying their knowledge and laboratory practices to help a needed community. First, students learned basic skills in microbiology diagnosis test during laboratory sessions. Once, students acquired abilities to make biochemical probes and handle biological samples, they went to the community and took stool samples from children (with the corresponding informed consent). Students processed the samples in the laboratory, searching for enteropathogenic microorganism with RapID™ ONE system (Thermo Scientific™) and parasites using Willis and Malloy modified technique. Finally, they compared the results with the nutritional status of the children, previously measured by anthropometric indicators. The anthropometric results were interpreted by the OMS Anthro software (WHO, 2011). The microbiological result was interpreted by ERIC® Electronic RapID™ Code Compendium software and validated by a physician. The results were analyses of infectious outcomes and nutritional status. Related to fieldwork community learning experiences, our students improved their knowledge in microbiology and were capable of applying this knowledge in a real-life situation. They found this kind of learning useful when they translate theory to a real-life situation. For most of our students, this is their first contact as health caregivers with real population, and this contact is very important to help them understand the reality of many people in Mexico. In conclusion, real-world or fieldwork learning experiences empower our students to have a real and better understanding of how they can apply their knowledge in microbiology and dietetics and help a much- needed population, this is the kind of reality that many people live in our country.

Keywords: real-world learning experiences, medical microbiology, dietetics, nutritional status, infectious status.

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Authors: Federico Herrera, Valle Gomez García de Soria, Itxaso Portero Sainz, Carlos Fernández Arandojo, Mercedes Royg, Ana Marcos Jimenez, Anna Kreutzman, Cecilia MuñozCalleja

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Introduction: Graft-versus-host disease (GVHD) still remains the major complication associated with allogeneic stem cell transplantation (SCT). The pathogenesis involves migration of donor naïve T-cells into recipient secondary lymphoid organs. Two molecules are important in this process: CD62L and CCR7, which are characteristically expressed in naïve/central memory T-cells. With this background, we aimed to study the influence of CCR7 and CD62L on donor lymphocytes in the development and severity of GVHD. Material and methods: This single center study included 98 donor-recipient pairs. Samples were collected prospectively from the apheresis product and phenotyped by flow cytometry. CCR7 and CD62L expression in CD4+ and CD8+ T-cells were compared between patients who developed acute (n=40) or chronic GVHD (n=33) and those who did not (n=38). Results: The patients who developed acute GVHD were transplanted with a higher percentage of CCR7+CD4+ T-cells (p = 0.05) compared to the no GVHD group. These results were confirmed when these patients were divided in degrees according to the severity of the disease; the more severe disease, the higher percentage of CCR7+CD4+ T-cells. Conversely, chronic GVHD patients received a higher percentage of CCR7+CD8+ T-cells (p=0.02) in comparison to those who did not develop the complication. These data were also confirmed when patients were subdivided in degrees of the disease severity. A multivariable analysis confirmed that percentage of CCR7+CD4+ T-cells is a predictive factor of acute GVHD whereas the percentage of CCR7+CD8+ T-cells is a predictive factor of chronic GVHD. In vitro functional assays (migration and activation assays) supported the idea of CCR7+ T-cells were involved in the development of GVHD. As low levels of CD62L expression were detected in all apheresis products, we tested the hypothesis that CD62L was shed during apheresis procedure. Comparing CD62L surface levels in T-cells from the same donor immediately before collecting the apheresis product, and the final apheresis product we found that this process down-regulated CD62L in both CD4+ and CD8+ T cells (p=0.008). Interestingly, when CD62L levels were analysed in days 30 or 60 after engraftment, they recovered to baseline (p=0.008). However, to investigate the relation between CD62L expression and the development of GVHD in the recipient samples after the engraftment, no differences were observed comparing patients with GVHD to those who did not develop the disease. Discussion: Our prospective study indicates that the CCR7+ T-cells from the donor, which include naïve and central memory T-cells, contain the alloreactive cells with a high ability to mediate GVHD (in the case of both migration and activation). Therefore we suggest that the proportion and functional properties of CCR7+CD4+ and CCR7+CD8+ T-cells in the apheresis could act as a predictive biomarker to both acute and chronic GVHD respectively. Importantly, our study precludes that CD62L is lost in the apheresis and therefore it is not a reliable biomarker for the development of GVHD.

Keywords: CCR7, CD62L, GVHD, SCT

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Authors: Yasir Karabacak

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Objective: The aim of periodontal therapy is to control and eliminate inflammation in order halt disease progression. The initial periodontal therapy (IPT) including scaling and root planing (SRP) can control periodontal disease in most cases of periodontitis; also maintaining good oral hygiene by the patient is fundamental. The aim of this case report is to present IPT and to present 3-month follow-up results in a patient with periodontitis. Materials and Methods IPT of a 63-year-old non-smoker male with generalized periodontitis is presented. The patient had no history of systemic disease. The intraoral examination reveals marked gingival inflammation as well as plaque accumulation and significant calculus deposits. On radiographic examination, severe bone loss was evident. The patient was diagnosed with generalized advanced periodontitis. Initial periodontal therapy including oral hygiene instructions and quadrant-based SRP under local anesthesia was performed using hand and ultrasonic instruments. No antibiotics were prescribed. The patient was recalled 4 weeks after IPT. Results Favorable clinical improvement was obtained. Gingival inflammation was resolved significantly. A reduction of the mean probing depth from 2.4 mm at baseline to 1.9 mm was observed. The patient presented with a good standard of oral hygiene. The plaque scores decreased from 54.0% at baseline to 17.0%. In addition, the percentage of sites with bleeding on probing decreased from 80.0% at baseline to 44.0%. The patient was scheduled for maintenance therapy every three months. Conclusion: The level of oral hygiene has a great impact on periodontal treatment outcome and supports periodontal therapy properly.

Keywords: initial periodontal, therapy and follow-up in a periodontitis, patient, a case report

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Authors: Mehdi Razeghi

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Background: The purpose of this case series was to quantify gait to study muscular dystrophy disease. In this research, the quantitative differences between normal and waddling gaits were assessed by force plate analysis. Methods: Nineteen myopathy patients and twenty normal subjects serving as the control group participated in this research. In this study, quantitative analyses of gait have been used to investigate the differences between the mobility of normal subjects and myopathy patients. This study was carried out at the Iranian Muscular Dystrophy Association in Boali Hospital, Tehran, Iran, from October 2015 to July 2020. Patient data were collected from Iranian Muscular Dystrophy Association members. individuals signed an informed consent form approved by the ethics committee of the Azad University. All of the gait tests were performed using a Kistler force platform. Participants walked at a self-selected speed, barefoot, independently, and without assistive devices. Results: Our findings indicate that there were no significant differences between the patients and the control group in the anterior-posterior components of the ground reaction forces; however, there were considerable differences in the force components between the groups in the medial-lateral and vertical directions of the ground reaction force. In addition, there were significant differences in the time parameters between the groups in the vertical and medial-lateral directions.

Keywords: biomechanics, force plate analysis, gait disorder, ground reaction force, kinetic analysis, myopathy disease, rehabilitation engineering

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Authors: Gilbert Makanda

Abstract:

The problem of the teaching of mathematics is studied using differential equations. A mathematical model for knowledge acquisition in mathematics is developed. In this study we adopt the mathematical model that is normally used for disease modelling in the teaching of mathematics. It is assumed that teaching is 'infecting' students with knowledge thereby spreading this knowledge to the students. It is also assumed that students who gain this knowledge spread it to other students making disease model appropriate to adopt for this problem. The results of this study show that increasing recruitment rates, learning contact with teachers and learning materials improves the number of knowledgeable students. High dropout rates and forgetting taught concepts also negatively affect the number of knowledgeable students. The developed model is then solved using Matlab ODE45 and \verb"lsqnonlin" to estimate parameters for the actual data.

Keywords: differential equations, knowledge acquisition, least squares, dynamical systems

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Authors: Ognen Kostovski, Svetozar Antovic, Rubens Jovanovic, Irena Kostovska, Nikola Jankulovski

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Introduction:Colorectal carcinoma (CRC) is one of the most common malignancies in the world. The cancer stem cell (CSC) markers are associated with aggressive cancer types and poor prognosis. The aim of study was to determine whether the expression of colorectal cancer stem cell markers CD133 and CD44 could be significant in prediction of clinically aggressive form of CRC. Materials and methods: Our study included ninety patients (n=90) with CRC. Patients were divided into two subgroups: with metatstatic CRC and non-metastatic CRC. Tumor samples were analyzed with standard histopathological methods, than was performed immunohistochemical analysis with monoclonal antibodies against CD133 and CD44 stem cell markers. Results: High coexpression of CD133 and CD44 was observed in 71.4% of patients with metastatic disease, compared to 37.9% in patients without metastases. Discordant expression of both markers was found in 8% of the subgroup with metastatic CRC, and in 13.4% of the subgroup without metastatic CRC. Statistical analyses showed a significant association of increased expression of CD133 and CD44 with the disease stage, T - category and N - nodal status. With multiple regression analysis the stage of disease was designate as a factor with the greatest statistically significant influence on expression of CD133 (p <0.0001) and CD44 (p <0.0001). Conclusion: Our results suggest that the coexpression of CD133 and CD44 have an important role in prediction of clinically aggressive form of CRC. Both stem cell markers can be routinely implemented in standard pathohistological diagnostics and can be useful markers for pre-therapeutic oncology screening.

Keywords: colorectal carcinoma, stem cells, CD133+, CD44+

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Authors: Jitaree Tantiyasawatdikul, Bantita Jadnok, Sarunya Tijana

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Background: Nutritional status is an important factor before, during, and after an operation. It can help wound healing. If the patients have good nutritional status before and after an operation, wound healing can occur more easily. It can strengthen the immune system leading to decreased infection, reduced length of stay, and reducing the cost to patients and caregivers. Therefore, screening to evaluate the nutritional status of patients in 3B becomes the database for further developing the treatment and also will lead to excellent service from the interdisciplinary team. Objective: To study the nutritional status of patients in surgical ward 3B at Surgical and Orthopedics Nursing Division, Srinagarind Hospital. Method: A descriptive study, to evaluate the nutritional status of 86 patients admitted in 3B between October 2014 and March 2015.The instruments used in this study consisted of two parts: 1) personal data, 2) Screening nutritional status. The data were analyzed by percentage and mean. Results: A sample population of 86 patients aged 22-81 years old, mean age 52.59years, 90.69% are married, female were 55.81%, regular diet 70.93%, patients with no problem oral cavity was 87.21%.The sample population had high incidence of CA 47.67% and secondly cardiovascular disease 36.05 %. Patients with high-risk nutrition was 12.79 % including 45.45% cardiovascular disease and 36.36% CA. Screening of nutritional status of high-risk nutrition was 39.36% severe triceps skinfold (TSF), severe mid-arm muscle circumference(MAMC) 9.09% and severe total lymphocyte 39.36%. Conclusion: The result of nutritional status screening of surgical ward 3B found 12.79% patients with high-risk nutrition including 45.45% with cardiovascular disease .There was no problem with oral cavity and eating.

Keywords: nutritional status, screening, surgical patients, 3B ward, Srinagarind Hospital

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Authors: Wendu Admasu, Assefa Sintayehu, Alemu Gezahgne, Zewdu Terefework

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Eucalyptus is the most widely planted forest tree species in the world. In Ethiopia, pathogenic fungi pose an increasing threat to Eucalyptus species. Due to limited research, there is insufficient information on the associated diseases and pathogens. This study investigated Eucalyptus diseases, the extent of their damage, and the causal fungal pathogens. A Eucalyptus disease survey was conducted in the Eucalyptus forestry areas of Ethiopia during the growth years 2019/20 and 2020/21. Disease assessment and sampling were carried out in eighteen plantations at nine locations. E. camaldulensis was the most dominant species planted in the surveyed areas. The field study shows a high incidence and severity of canker diseases. Diseased stem and branch samples were collected, cultured on malt extract agar media and studied. The results of morphological and ITS sequence analysis confirmed that the fungal species Neofusicoccum parvum, Lasiodiplodia theobromae, and Aplosporella hesperidica caused the observed canker symptoms. This is the first report of Lasiodiplodia theobromae and Aplosporella hesperidica causing diseases in Eucalyptus plants in Ethiopia. Changes in global climate and environmental factors, such as altitude, are believed to have a strong impact on the susceptibility of Eucalyptus plants to diseases. Strict quarantine practices and continuous monitoring of pathogenic and endophytic fungal species associated with Eucalyptus trees are issued to be prioritized to effectively control and manage the disease.

Keywords: Neofusicoccum, Lasiodiplodia, Aplosporella, pathogenicity, phylogeny, severity

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Authors: Maria Giovanna Lupo, Marina Camera, Marcello Rattazzi, Nicola Ferri

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A complex interplay among chronic kidney disease, lipid metabolism and aortic calcification has been recognized starting from results of many clinical and experimental studies. Here we investigated the influence of kidney function on PCSK9 levels, both in uremic rats and in clinical observation study, and its potential direct action on cultured smooth muscle cells (SMCs) calcification. In a cohort of 594 subjects enrolled in a single centre, observational, cross-sectional and longitudinal study, a negative association between GFR and plasma PCSK9 was found. Atherosclerotic cardiovascular disease (ASCVD), as co-morbidity, further increased PCSK9 plasma levels. Diet-induced uremic condition in rats, induced aortic calcification and increased total cholesterol and PCSK9 levels in plasma, livers and kidneys. Immunohistochemical analysis confirmed PCSK9 expression in aortic SMCs. SMCs overexpressing PCSK9 (SMCsPCSK9), cultured for 7-days in a pro-calcification environment (2.0mM or 2.4mM inorganic phosphate, Pi) showed a significantly higher extracellular calcium (Ca2+) deposition compared to mocked SMCs. Under the same experimental conditions, the addition of exogenous recombinant PCSK9 did not increase the extracellular calcification of SMCs. By flow cytometry analysis we showed that SMCsPCSK9, in response to 2.4mM Pi, released higher number of extracellular vesicles (EVs) positive for three tetraspanin molecules, such as CD63, CD9, and CD81. EVs derived from SMCsPCSK9 tended to be more enriched in calcium and alkaline phosphatase (ALPL), compared to EVs from mocks SMCs. In conclusion, our study reveals a direct role of PCSK9 on vascular calcification induced by higher inorganic phosphate levels associated to CKD condition. This effect appears to be mediated by a positive effect of endogenous PCSK9 on the release of EVs containing Ca2+ and ALP, which facilitate the deposition inorganic calcium phosphate crystals.

Keywords: PCSK9, calcification, extracellular vesicles, chronic kidney disease

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Authors: David Ming Liu, Benjamin Hirsch, Bashir Aden

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Syndromic surveillance is to detect or predict disease outbreaks through the analysis of medical sources of data. Using social media data like tweets to do syndromic surveillance becomes more and more popular with the aid of open platform to collect data and the advantage of microblogging text and mobile geographic location features. In this paper, a Syndromic Surveillance Framework is presented with machine learning kernel using tweets data analytics. Influenza and the three cities Abu Dhabi, Al Ain and Dubai of United Arabic Emirates are used as the test disease and trial areas. Hospital cases data provided by the Health Authority of Abu Dhabi (HAAD) are used for the correlation purpose. In our model, Latent Dirichlet allocation (LDA) engine is adapted to do supervised learning classification and N-Fold cross validation confusion matrix are given as the simulation results with overall system recall 85.595% performance achieved.

Keywords: Syndromic surveillance, Tweets, Machine Learning, data mining, Latent Dirichlet allocation (LDA), Influenza

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Authors: Yahya Ibrahim Harande

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The purpose of this study was to identify the journals that published articles on malaria disease in Africa and to determine the core of productive journals from the identified journals. The data for the study were culled out from African Index Medicus (AIM) database. A total of 529 articles was gathered from 115 journal titles from 1979-2011. In order to obtain the core of productive journals, Bradford`s law was applied to the collected data. Five journal titles were identified and determined as core journals. The data used for the study was analyzed and that, the subject matter used, Malaria was in conformity with the Bradford`s law. On the aspect dispersion of the literature, English was found to be the dominant language of the journals. (80.9%) followed by French (16.5%). Followed by Portuguese (1.7%) and German (0.9%). Recommendation is hereby proposed for the medical libraries to acquire these five journals that constitute the core in malaria literature for the use of their clients. It could also help in streamlining their acquision and selection exercises. More researches in the subject area using Bibliometrics approaches are hereby recommended.

Keywords: productive journals, malaria disease literature, Bradford`s law, core journals, African scholars

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Authors: Anita Paddy, Millicent Obodai, Lebbaeus Asamani

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The management of sickle cell disease requires a multidisciplinary team for better outcomes. Thus, literature on the application of the biopsychosocial model for the management and explanation of chronic pain in sickle cell disease (SCD) and other chronic diseases abound. However, there is limited research on the use of the biopsychosocial model, together with a spiritual component (biopsychosocial-spiritual model). The study investigated the extent to which healthcare providers utilized the biopsychosocial-spiritual model in the management of chronic pain to improve the quality of life (QoL) of patients with SCD. This study employed the descriptive survey design involving a consecutive sampling of 261 patients with SCD who were between the ages of 18 to 79 years and were accessing hematological services at the Clinical Genetics Department of the Korle Bu Teaching Hospital. These patients willingly consented to participate in the study by appending their signatures. The theory of integrated quality of life, the gate control theory of pain and the biopsychosocial(spiritual) model were tested. An instrument for the biopsychosocial-spiritual model was developed, with a basis from the literature reviewed, while the World Health Organisation Quality of Life BREF (WHOQoLBref) and the spirituality rating scale were adapted and used for data collection. Data were analyzed using descriptive statistics (means, standard deviations, frequencies, and percentages) and partial least square structural equation modeling. The study revealed that healthcare providers had a great leaning toward the biological domain of the model compared to the other domains. Hence, participants’ QoL was not fully improved as suggested by the biopsychosocial(spiritual) model. Again, the QoL and spirituality of patients with SCD were quite high. A significant negative impact of spirituality on QoL was also found. Finally, the biosocial domain of the biopsychosocial-spiritual model was the most significant predictor of QoL. It was recommended that policymakers train healthcare providers to integrate the psychosocial-spiritual component in health services. Also, education on SCD and its resultant impact from the domains of the model should be intensified while health practitioners consider utilizing these components fully in the management of the condition.

Keywords: biopsychosocial (spritual), sickle cell disease, quality of life, healthcare, accra

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