Search results for: genetic diagnosis

Authors: Deepanjali Gurav, Kun Qian

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In-vitro metabolic diagnosis relies on designed materials-based analytical platforms for detection of selected metabolites in biological samples, which has a key role in disease detection and therapeutic evaluation in clinics. However, the basic challenge deals with developing a simple approach for metabolic analysis in bio-samples with high sample complexity and low molecular abundance. In this work, we report a designer plasmonic nanoshells based platform for direct detection of small metabolites in clinical samples for in-vitro metabolic diagnostics. We first synthesized a series of plasmonic core-shell particles with tunable nanoshell structures. The optimized plasmonic nanoshells as new matrices allowed fast, multiplex, sensitive, and selective LDI MS (Laser desorption/ionization mass spectrometry) detection of small metabolites in 0.5 μL of bio-fluids without enrichment or purification. Furthermore, coupling with isotopic quantification of selected metabolites, we demonstrated the use of these plasmonic nanoshells for disease detection and therapeutic evaluation in clinics. For disease detection, we identified patients with postoperative brain infection through glucose quantitation and daily monitoring by cerebrospinal fluid (CSF) analysis. For therapeutic evaluation, we investigated drug distribution in blood and CSF systems and validated the function and permeability of blood-brain/CSF-barriers, during therapeutic treatment of patients with cerebral edema for pharmacokinetic study. Our work sheds light on the design of materials for high-performance metabolic analysis and precision diagnostics in real cases.

Keywords: plasmonic nanoparticles, metabolites, fingerprinting, mass spectrometry, in-vitro diagnostics

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Authors: Abdullah Malek, Muzn Al Khaldi, Lian Odeh, Atheer Tariq, Mohammad Al Fardan, Hiba Barqawi

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H. pylori bacterium is a known underlying agent for gastritis, peptic ulcer disease, and gastric cancer and is believed to infect half of the world’s population. Even with the ubiquity of H. pylori bacterium, there is lack of knowledge regarding its modes of transmission, associated diseases, carcinogenic effect and means of prevention; especially in the UAE. A cross sectional study of 500 participants, of which 58% (n= 289) of the respondents were female, and 42% (n=210) were male, was conducted in Sharjah to assess the knowledge, and explore the attitudes and practices among UAE residents towards Helicobacter Pylori and its associated PUD as well as its carcinogenic nature. A structured self-administered questionnaire was distributed to the target population to establish their demographic background and selected aspects of their lifestyle. General knowledge about H. Pylori was poor, only 24.6% stated they have heard of H. pylori. Attitudes towards prevention and practices were relatively poor as well. Subjects who suffered from severe symptoms (ALARM symptoms) had significantly lower habit scores than those with mild and moderate symptoms (p=0.0078**). To the authours’ knowledge, no previous studies were conducted in the United Arab Emirates regarding the epidemiology of the infection to detect the extent of H. Pylori’s impact on the public health. The results of this study can be used to draw conclusions about the average knowledge of the UAE population regarding H. pylori. It can also be a starting point to devise new education programs and campaigns that raise awareness of this health issue which could be easily avoided with early diagnosis and antibiotic treatment.

Keywords: chronic gastritis, community health, gastric cancer, Helicobacter pylori, peptic ulcers

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Authors: Wafa Toumi, Alessandro Ripalti, Luigi Ricciardiello, Dalila Gargouri, Jamel Kharrat, Abderraouf Cherif, Ahmed Bouhafa, Slim Jarboui, Mohamed Zili, Ridha Khelifa

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Background & aims: Colorectal cancer (CRC) is one of the most common malignancies throughout the world. Several risk factors, both genetic and environmental, including viral infections, have been linked to colorectal carcinogenesis. A few studies report the detection of human polyomavirus JC (JCV) DNA and transformation antigen (T-Ag) in a fraction of the colorectal tumors studied and suggest an association of this virus with CRC. In order to investigate whether such an association of JCV with CRC will hold in a different epidemiological setting, we looked for the presence of JCV DNA and T-Ag expression in a group of Tunisian CRC patients. Methods: Fresh colorectal mucosa biopsies were obtained from 17 healthy volunteers and from both colorectal tumors and adjacent normal tissues of 47 CRC patients. DNA was extracted from fresh biopsies or from formalin-fixed, paraffin-embedded tissue sections using the Invitrogen Purelink Genomic DNA mini Kit. A simple PCR and a nested PCR were used to amplify a region of the T-Ag gene. The obtained PCR products revealed a 154 bp and a 98 bp bands, respectively. Specificity was confirmed by sequencing of the PCR products. T-Ag expression was determined by immunohistochemical staining using a mouse monoclonal antibody (clone PAb416) directed against SV40 T-Ag that cross reacts with JCV T-Ag. Results: JCV DNA was found in 12 (25%) and 22 (46%) of the CRC tumors by simple PCR and by nested PCR, respectively. All paired adjacent normal mucosa biopsies were negative for viral DNA. Sequencing of the DNA amplicons obtained confirmed the authenticity of T-Ag sequences. Immunohistochemical staining showed nuclear T-Ag expression in all 22 JCV DNA- positive samples and in 3 additional tumor samples which appeared DNA-negative by PCR. Conclusions: These results suggest an association of JCV with a subpopulation of Tunisian colorectal tumors.

Keywords: colorectal cancer, immunohistochemistry, Polyomavirus JC, PCR

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Authors: Nadiya Zahra Karimi, Amir Ghiami Rad

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The physical health of students from an early age and the proper formation of the musculoskeletal system of their body is part of the overall health of these people. Most chronic musculoskeletal problems and pains can be controlled and reduced with education at an early age. Therefore, with the correct and timely diagnosis of these abnormalities, we can play an important role in their proper treatment and control, and in a way, raise the level of quality of life and positive self-concept in students. The aim of this study was to investigate the relationship between erectile dysfunctions of the upper limbs (head and neck, shoulder, thoracic and lumbar) and the quality of life and self-concept of male students aged 7 to 10 years. The statical population of the study consists of 227 students of shahadat boys’ primary school in khajeh city. Due to the corona pandemic conditions, the research samples were identified after screening and available according to the entrance criteria of the study. To validate the quality of life, the valid WHOQOL-BREF questionnaire will be used for self-concept variables, Dolatabadi, Fatemeh (2007) questionnaire, and for physical screening, a checkerboard, plumb line, and flexible ruler will be used. There is a negative and significant relationship between the dimensions of upper limb anomalies and quality of life factors, and also there is a negative and significant relationship between the dimensions of upper limb anomalies and self-concept factors. The results showed that there is a negative and significant relationship between head and neck abnormalities with quality of life and self-concept factors, with a significance level of less than 0.05 in male students aged 7 to 10 years.

Keywords: upper limb erectile dysfunction, quality of life, self-concept, erectile abnormalities

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Authors: Naso Isaiah Thanavisuth

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

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

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Authors: Arpit K. Shrivastava, Nirmal K. Mohakud, Subrat Kumar, Priyadarshi S. Sahu

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Acute diarrhea is one of the major causes of morbidity and mortality among children less than five years of age. Multiple etiologies have been implicated for infectious gastroenteritis causing acute diarrhea. In our study fecal samples (n=165) were collected from children (<5 years) presenting with symptoms of acute diarrhea. Samples were screened for viral, bacterial, and parasitic etiologies such as Rotavirus, Adenovirus, Diarrhoeagenic Escherichia coli (EPEC, EHEC, STEC, O157, O111), Shigella spp., Salmonella spp., Vibrio cholera, Cryptosporidium spp., and Giardia spp. The overall results from our study showed that 57% of children below 5 years of age with acute diarrhea were positive for at least one infectious etiology. Diarrhoeagenic Escherichia coli was detected to be the major etiological agent (29.09%) followed by Rotavirus (24.24%), Shigella (21.21%), Adenovirus (5.45%), Cryptosporidium (2.42%), and Giardia (0.60%). Among the different DEC strains, EPEC was detected significantly higher in <2 years children in comparison to >2 years age group (p =0.001). Concurrent infections with two or more pathogens were observed in 47 of 160 (28.48%) cases with a predominant incidence particularly in <2-year-old children (66.66%) compared to children of 2 to 5 years age group. Co-infection of Rotavirus with Shigella was the most frequent combination, which was detected in 17.94% cases, followed by Rotavirus with EPEC (15.38%) and Shigella with STEC (12.82%). Detection of multiple infectious etiologies and diagnosis of the right causative agent(s) can immensely help in better management of acute childhood diarrhea. In future more studies focusing on the detection of cases with concurrent infections must be carried out, as we believe that the etiological agents might be complementing each other’s strategies of pathogenesis resulting in severe diarrhea.

Keywords: children, co-infection, infectious diarrhea, Odisha

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Authors: Usha Barahmand, Maria Stalias, Abdul Haq, Esther Rotlevi, Ying Xiang

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Misophonia is a condition in which specific repetitive oral, nasal, or other sounds and movements made by humans trigger impulsive aversive reactions of irritation or disgust that instantly become anger. A few measures exist for the assessment of misophonia, but each has some limitations, and evidence for a formal diagnosis is still lacking. The objective of this study was to develop a reliable and valid measure of misophonia for use in the general population. Adopting a purely descriptive approach, this study focused on developing a self-report measure using all triggers and reactions identified in previous studies on misophonia. A measure with two subscales, one assessing the aversive quality of various triggers and the other assessing reactions of individuals, was developed. Data were gathered from a large sample of both men and women ranging in age from 18 to 65 years. Exploratory factor analysis revealed three main triggers: oral/nasal sounds, hand and leg movements, and environmental sounds. Two clusters of reactions also emerged: nonangry attempts to avoid the impact of the aversive stimuli and angry attempts to stop the aversive stimuli. The examination of the psychometric properties of the scale revealed its internal consistency and test-retest reliability to be excellent. The scale was also found to have very good concurrent and convergent validity. Significant annoyance and disgust in response to the triggers were reported by 12% of the sample, although for some specific triggers, rates as high as 31% were also reported. These findings have implications for the delineation of the criteria for identifying misophonia as a clinical condition.

Keywords: adults, factor analysis, misophonia, psychometric properties, scale

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Authors: Suvalux Chaichuchote, Ratchadaporn Thonghem

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Pleurotus mushroom is one of popular edible mushrooms in Thailand. It is much favored by consumers due to its delicious taste and high nutrition. It is commonly used as an ingredient in several dishes. The commercially cultivated strain grown in most farms is the Pleurotus sp., Hed Bhutan, that is widely distributed to mushroom farms throughout the country and can be cultivated almost all year round. However, it demands different cultivated strains from mushroom growers, therefore, the improving mushroom strains should be done to their benefits. In this study, we used a di-mon mating method to hybrid production from Hed Bhutan (P-3) as dikaryon material and monokaryotic mycelium were isolated from basidiospores of other three Pleurotus sp. by single spore isolation. The 3 hybrids: P-3XSA-6, P-3XSB-24 and P-3XSE-5 were recognized from the 12 hybridized successfully. They were appropriate hybridized in terms of fruiting body performance in the three time cycles of cultivation such as the number of days until growing, time for pinning, color and shape of fruiting bodies and yield. For genetic study, genomic DNAs of both Hed Bhutan (P-3) and three hybrids were extracted. A couple of primer ITS1 and ITS4 were used to amplify the gene coding for ITS1, ITS2 and 5.8S rRNA. The similarities between these amplified genes and databases of DNA revealed that Hed Bhutan (P-3) was the Pleurotus pulmonarius as well as P-3XSA-6, P-3XSB-24 and P-3XSE-5 hybrids. Furthermore, Hed Bhutan (P3) and three hybrids were distributed to 3 small-scale farms, with mushroom farming experience, in the countryside. To address this, one hundred and twenty mushroom bags of each strain were supplied to them. The findings, by interview, indicated two mushroom farmers were satisfied with P-3XSA-6 hybrid and P-3XSB-24 hybrid, thanks to their simultaneous fruiting time and good yield. While the other was satisfied with P-3XSB-24 hybrid due to its good yield and P-3XSE-5 hybrids thanks to its gradually fruiting body, benefiting in frequent harvest. Overall, farmers adopted all hybrids to grow as commercially cultivated strains as well as Hed Bhutan (P-3) strain.

Keywords: dikaryon, monokaryon, pleurotus, strain improvement

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Authors: Hsiao-Chuan Huang, King-Lung Kuo, Mei-Hsin Lo, Hsiao-Yun Chou, Yusen Lin

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The most robust and economical method for laboratory diagnosis of TB is to identify mycobacterial bacilli (AFB) under acid-fast staining despite its disadvantages of low sensitivity and labor-intensive. Though digital pathology becomes popular in medicine, an automated microscopic system for microbiology is still not available. A new AI-assisted automated microscopic system, consisting of a microscopic scanner and recognition program powered by big data and deep learning, may significantly increase the sensitivity of TB smear microscopy. Thus, the objective is to evaluate such an automatic system for the identification of AFB. A total of 5,930 smears was enrolled for this study. An intelligent microscope system (TB-Scan, Wellgen Medical, Taiwan) was used for microscopic image scanning and AFB detection. 272 AFB smears were used for transfer learning to increase the accuracy. Referee medical technicians were used as Gold Standard for result discrepancy. Results showed that, under a total of 1726 AFB smears, the automated system's accuracy, sensitivity and specificity were 95.6% (1,650/1,726), 87.7% (57/65), and 95.9% (1,593/1,661), respectively. Compared to culture, the sensitivity for human technicians was only 33.8% (38/142); however, the automated system can achieve 74.6% (106/142), which is significantly higher than human technicians, and this is the first of such an automated microscope system for TB smear testing in a controlled trial. This automated system could achieve higher TB smear sensitivity and laboratory efficiency and may complement molecular methods (eg. GeneXpert) to reduce the total cost for TB control. Furthermore, such an automated system is capable of remote access by the internet and can be deployed in the area with limited medical resources.

Keywords: TB smears, automated microscope, artificial intelligence, medical imaging

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Authors: Muhsin Kizhisseri, Jorg Schluter, Saleh Gharie

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Atherosclerosis is the main reason of stroke, which is one of the deadliest diseases in the world. The carotid artery in the brain is the prominent location for atherosclerotic progression, which hinders the blood flow into the brain. The inclusion of computational fluid dynamics (CFD) into the diagnosis cycle to understand the hemodynamics of the patient-specific carotid artery can give insights into stroke prediction. Realistic outlet boundary conditions are an inevitable part of the numerical simulations, which is one of the major factors in determining the accuracy of the CFD results. The Windkessel model-based outlet boundary conditions can give more realistic characteristics of the distal vascular branches of the carotid artery, such as the resistance to the blood flow and compliance of the distal arterial walls. This study aims to find the most influential distal branches of the carotid artery by using the Windkessel model parameters in the outlet boundary conditions. The parametric study approach to Windkessel model parameters can include the geometrical features of the distal branches, such as radius and length. The incorporation of the variations of the geometrical features of the major distal branches such as the middle cerebral artery, anterior cerebral artery, and ophthalmic artery through the Windkessel model can aid in identifying the most influential distal branch in the carotid artery. The results from this study can help physicians and stroke neurologists to have a more detailed and accurate judgment of the patient's condition.

Keywords: stroke, carotid artery, computational fluid dynamics, patient-specific, Windkessel model, distal vascular branches

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Authors: Ebtisam A. Benomran, Abdurrauf M. Gusbi, Malak S. Elazarg, M. Sultan, Layla M. Kafu, Arwa M. Matoug, Esra E. Benamara

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Normal pregnancy is associated with metabolic changes leading to decreased insulin sensitivity and reduced glucose tolerance, however, 3-5% of pregnant women proceed to develop gestational diabetes mellitus (GDM). Researcher studied the use of metformin in many fields and the benefit to risk balance of using metformin during pregnancy and the risk of fetotoxic. In this study we examined the use of Metformin to control Glucose in pregnant Women with gestational diabetes mellitus (GDM) and evaluate its safety use during the first trimester of pregnancy.A group of pregnant patients with gestational diabetes mellitus from the first trimester of pregnancy, non smoking with no family history of congenital malformation disease, aged between (20-45 years) and have no liver diseases and who had indicating good compliance at more than one visit over several month until delivery put on Metformin were participated in this trial. Our study shown that all the studied group of pregnant women using metformin 500 mg daily delivered a healthy babies. Meta-analysis by mother risk program showed no increase in incidence of malformations by use Metformin during the first trimester of pregnancy. A hundred outpatients were participated in the survey on the general knowledge and awareness of diabetic patients to their illness and medication used their aged between 20-40 years old. In this survey we realize that 90% of the doctors are not giving the patient full information about their illness and the use of metformin during pregnancy, also about 65% of the patients did not know about the nutritionist in the hospital and the right control diet for diabetes. Courses on first aid, rapid diagnosis of poisoning and follow the written procedures to dealing with such cases.

Keywords: gestational diabetes, malformations, metformin, pregnancy

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Authors: Mona Hejazi, Ali Motie Nasrabadi

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Epilepsy is a persistent neurological disorder that affects more than 50 million people worldwide. Hence, there is a necessity to introduce an efficient prediction model for making a correct diagnosis of the epileptic seizure and accurate prediction of its type. In this study we consider how the Effective Connectivity (EC) patterns obtained from intracranial Electroencephalographic (EEG) recordings reveal information about the dynamics of the epileptic brain and can be used to predict imminent seizures, as this will enable the patients (and caregivers) to take appropriate precautions. We use this definition because we believe that effective connectivity near seizures begin to change, so we can predict seizures according to this feature. Results are reported on the standard Freiburg EEG dataset which contains data from 21 patients suffering from medically intractable focal epilepsy. Six channels of EEG from each patients are considered and effective connectivity using Directed Transfer Function (DTF) and Granger Causality (GC) methods is estimated. We concentrate on effective connectivity standard deviation over time and feature changes in five brain frequency sub-bands (Alpha, Beta, Theta, Delta, and Gamma) are compared. The performance obtained for the proposed scheme in predicting seizures is: average prediction time is 50 minutes before seizure onset, the maximum sensitivity is approximate ~80% and the false positive rate is 0.33 FP/h. DTF method is more acceptable to predict epileptic seizures and generally we can observe that the greater results are in gamma and beta sub-bands. The research of this paper is significantly helpful for clinical applications, especially for the exploitation of online portable devices.

Keywords: effective connectivity, Granger causality, directed transfer function, epilepsy seizure prediction, EEG

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Authors: Camille Intson

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This paper endeavors to explore the opportunities, challenges, and ethics of reconstructing and re-enacting archives of memory through virtual reality (VR) performance, using Jordan Tannahill’s Draw Me Close as an exemplary case study. Draw Me Close is a 1:1 virtual reality (VR) performance in which the artist’s childhood memories, experiences, and interactions with his mother are reconstructed in the wake of her passing. Solo audience members are positioned as Jordan (the subject and character) and taken through a series of narratives, (virtual) spaces, and interactions with his “mother,” played by a live actor. Piece by piece, audiences are brought into the world of the “shifting” archive, inhabiting Jordan’s reconstructed virtual world from his early explorations of queer sexuality through to his mother’s cancer diagnosis and passing. This paper will explore how the world of Draw Me Close represents a “touching” and/or “queering” of time within its archive, blurring and transgressing the boundaries between the animate and the inanimate, life and death. On a philosophical level, considering foundational queer performance scholarship and archival theory, it will also examine how performance’s ephemerality rewards its artists with the dual advantages of visibility and protection, allowing for an ethical exploration of traumatic memory and loss within a disappearing medium. Finally, this provocation will use Draw Me Close as a point of departure from which to outline future possibilities for performance and emerging technologies’ engagements with archival theory and practice. By positioning virtual reality (VR) as an archive-constructing medium, it aims to move beyond the question of how we can take performances seriously as archives towards how personal archive construction is itself a performative act.

Keywords: intermedial theatre, new media arts, queer performance, virtual reality

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Authors: Angelis P. Barlampas

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Purpose: A 29 years old woman presented in the emergency department with psychiatric symptoms. The psychiatrist ordered a computed tomography scan as part of a general examination. Material and methods: The CT showed bilateral enlarged choroid plexus structures mimicking papillomata and situated in the trigones of the lateral ventricles. The left choroid plexus was heavily calcified, but the right one has no any obvious calcifications. Results: It is well kown that any brain mass can present with behavioral changes and even psychiatric symptomatology. Papillomata of the ventricular system have been described to cause psychotic episodes. According to literature, choroid plexus papillomas are seldom neuroepithelial intraventricular tumors, which are benign and categorized as WHO grade 1 tumors. They are more common in the pediatric population, but they can occur in the adults, too1. In addition, the distinction between choroid plexus papilloma and carcinoma is very difficult and impossible by imagine alone. It can only be implied with more advanced imaging, such as arterial spin labeling and MRI. The final diagnosis is, of course, after surgical excision. The usual location in adults is the fourth ventricle, but in children, it is the lateral ventricles. Their imaging appearance is that of a solid vascular tumor, which enhances intensely after the intravenous administration of contrast material. One out of fourth tumors presents speckled calcifications1. In our case, there are symmetrically sized masses at the trigones, and there are no calcifications in one of them, whereas the other one is grossly calcified. Also, there is no obvious hydrocephalus or any other evidence of increased intracranial pressure. General conclusions: When there is a new psychiatric patient, someone must undergo any possible examination, and of course, a brain CT study should be done to exclude any rare organic causes that may be responsible for the disease.

Keywords: phycosis, intraventricular masses, CT, brain calcifications

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Authors: Smriti Gour, Neelam Pandey

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The objective of this study was to describe and analyse the mutual relationship between the coping mechanisms used by the families of a child with Autism Spectrum Disorder (ASD) and family dynamics and the effect sibling interactions have on the dynamics and coping mechanisms in an urban setup. In-depth interviews were conducted for 25 families, with 4 members each in the Delhi NCR area in India. The families who were interviewed had a younger child who had received a diagnosis of ASD between the ages of 5-12. The in-depth questionnaires contained open-ended questions and the interviews were conducted separately for the mother, father and the typically developing sibling. The key findings of the study suggested that lack of communication was a common factor in most families (n=19) leading to other difficulties like stress and relationship dysfunction. It also fostered a fallacious perception of the relationship dynamics in the family in most of the interviewed families and changed depending on the family member being interviewed. In families where the typically developing elder sibling had a good relationship with the autistic child, the family dynamics were found to be more stable, and the overall family well-being was better maintained. The coping mechanisms employed by the families were also more positive and tended to work better if the typically developing sibling maintained a positive and interactive relationship with the parents and the autistic child. The type of coping mechanisms had a major impact on the relationship between the parents and in dictating the dynamics of the family of the child with ASD. Spirituality, professional help, family support and household help emerged to be the most effective coping mechanisms for the families, with spirituality emerging to be the most positive and effective coping mechanism in the families interviewed.

Keywords: autism spectrum disorder, coping mechanism, family dynamics, parental relationships, siblings

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Authors: Ersilio Tushaj

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The efficient solution that satisfies the optimal condition is an important issue in the structural engineering design problem. The new codes of structural design consist in design methodology that looks after the exploitation of the total resources of the construction material. In recent years some non-deterministic or meta-heuristic structural optimization algorithms have been developed widely in the research community. These methods search the optimum condition starting from the simulation of a natural phenomenon, such as survival of the fittest, the immune system, swarm intelligence or the cooling process of molten metal through annealing. Among these techniques the most known are: the genetic algorithms, simulated annealing, evolution strategies, particle swarm optimization, tabu search, ant colony optimization, harmony search and big bang crunch optimization. In this study, five of these algorithms are applied for the optimum weight design of a steel truss structure with variable geometry but fixed topology. The design process selects optimum distances and size sections from a set of commercial steel profiles. In the formulation of the design problem are considered deflection limitations, buckling and allowable stress constraints. The approach is repeated starting from different initial populations. The design problem topology is taken from an existing steel structure. The optimization process helps the engineer to achieve good final solutions, avoiding the repetitive evaluation of alternative designs in a time consuming process. The algorithms used for the application, the results of the optimal solutions, the number of iterations and the minimal weight designs, will be reported in the paper. Based on these results, it would be estimated, the amount of the steel that could be saved by applying structural analysis combined with non-deterministic optimization methods.

Keywords: structural optimization, non-deterministic methods, truss structures, steel truss

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Authors: Sawsen Jarray, Tahani Hallek, Mabrouk Montacer

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The tectonically damaged terrain in Tunisia's Northwest is seen in the country's numerous oil leaks. Finding a genetic link between these oil seeps and the area's putative source rocks is the goal of this investigation. Here, we use aliphatic biomarkers assessed by GC-MS to describe the organic geochemical data of 18 oil seeps samples and 4 source rocks (M'Cherga, Fahdene, Bahloul, and BouDabbous). In order to establish correlations between oil and oil and oil and source rock, terpanes, hopanes, and steranes biomarkers were identified. The source rocks under study were deposited in a marine environment and were suboxic, with minor signs of continental input for the M'Cherga Formation. There is no connection between the Fahdene and Bahloul source rocks and the udied oil seeps. According to the biomarkers C27 18-22,29,30trisnorneohopane (Ts) and C27 17-22,29,30-trisnorhopane (Tm), these source rocks are mature and have reached the oil window. Regarding oil seeps, geochemical data indicate that, with the exception of four samples that showed some continental markings, the bulk of samples were deposited in an open marine environment. These most recent samples from oil seeps have a unique lithology (marl) that distinguishes them from the others (carbonate). There are two classes of oil seeps, according to statistical analysis of relationships between oil and oil and oil and source rocks. The first comprised samples that showed a positive connection with carbonate-lithological and marine-derived BouDabbous black shales. The second is a result of M'Cherga source rock and is made up of oil seeps with remnants of the terrestrial environment and a lithology with a marl trend. The Fahdene and Bahloul source rocks have no connection to the observed oil seeps. There are two different types of hydrocarbon spills depending on their link to tectonic deformations (oil seeps) and outcropping mature source rocks (oil impregnations), in addition to the existence of two generations of hydrocarbon spills in Northwest Tunisia (Lower Cretaceous/Ypresian).

Keywords: petroleum seeps, source rocks, biomarkers, statistic, Northern Tunisia

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Authors: Geetanjali Sharma

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Guillain Barre’ syndrome (GBS) is an auto-immune mediated demyelination poly-radiculo-neuropathy. Clinical features include progressive symmetrical ascending muscle weakness of more than two limbs, areflexia with or without sensory, autonomic and brainstem abnormalities, the purpose of this study was to determine subclinical neurological changes of CNS with GBS and to establish the presence of central demyelination in GBS. The study was prospective and conducted in the Department of Physiology, Pt. B. D. Sharma Post-graduate Institute of Medical Sciences, University of Health Sciences, Rohtak, Haryana, India to find out early central demyelination in clinically diagnosed patients of GBS. These patients were referred from the department of Medicine of our Institute to our department for electro-diagnostic evaluation. The study group comprised of 40 subjects (20 clinically diagnosed GBS patients and 20 healthy individuals as controls) aged between 6-65 years. Brain Stem evoked Potential (BAEP) were done in both groups using RMS EMG EP mark II machine. BAEP parameters included the latencies of waves I to IV, inter peak latencies I-III, III-IV & I-V. Statistically significant increase in absolute peak and inter peak latencies in the GBS group as compared with control group was noted. Results of evoked potential reflect impairment of auditory pathways probably due to focal demyelination in Schwann cell derived myelin sheaths that cover the extramedullary portion of auditory nerves. Early detection of the sub-clinical abnormalities is important as timely intervention reduces morbidity.

Keywords: brainstem, demyelination, evoked potential, Guillain Barre’

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Authors: Leonardo C. Pacheco-Londoño, Nataly J Galan-Freyle, Lisandro Pacheco-Lugo, Antonio Acosta-Hoyos, Elkin Navarro, Gustavo Aroca-Martinez, Karin Rondón-Payares, Alberto C. Espinosa-Garavito, Samuel P. Hernández-Rivera

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At the Life Science Research Center at Simon Bolivar University, a primary focus is the diagnosis of various diseases, and the use of gold nanoparticles (Au-NPs) in diverse biomedical applications is continually expanding. In the present study, Au-NPs were employed as substrates for Surface-Enhanced Raman Spectroscopy (SERS) aimed at diagnosing kidney diseases arising from Lupus Nephritis (LN), preeclampsia (PC), and Hypertension (H). Discrimination models were developed for distinguishing patients with and without kidney diseases based on the SERS signals from urine samples by partial least squares-discriminant analysis (PLS-DA). A comparative study of the Raman signals across the three conditions was conducted, leading to the identification of potential metabolite signals. Model performance was assessed through cross-validation and external validation, determining parameters like sensitivity and specificity. Additionally, a secondary analysis was performed using machine learning (ML) models, wherein different ML algorithms were evaluated for their efficiency. Models’ validation was carried out using cross-validation and external validation, and other parameters were determined, such as sensitivity and specificity; the models showed average values of 0.9 for both parameters. Additionally, it is not possible to highlight this collaborative effort involved two university research centers and two healthcare institutions, ensuring ethical treatment and informed consent of patient samples.

Keywords: SERS, Raman, PLS-DA, kidney diseases

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Authors: Srishty Gulati, Anju Singh, Shrikant Kukreti

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The manifestation of structural polymorphism in DNA depends on the sequence and surrounding environment. Ample of folded DNA structures have been found in the cellular system out of which DNA hairpins are very common, however, are indispensable due to their role in the replication initiation sites, recombination, transcription regulation, and protein recognition. We enumerate this approach in our study, where the two base substitutions and change in temperature embark destabilization of DNA structure and misbalance the equilibrium between two structures of a sequence present at the overlapping region of the human COMT gene and MIR4761 gene. COMT and MIR4761 gene encodes for catechol-O-methyltransferase (COMT) enzyme and microRNAs (miRNAs), respectively. Environmental changes and errors during cell division lead to genetic abnormalities. The COMT gene entailed in dopamine regulation fosters neurological diseases like Parkinson's disease, schizophrenia, velocardiofacial syndrome, etc. A 19-mer deoxyoligonucleotide sequence 5'-AGGACAAGGTGTGCATGCC-3' (COMT19) is located at exon-4 on chromosome 22 and band q11.2 at the intersection of COMT and MIR4761 gene. Bioinformatics studies suggest that this sequence is conserved in humans and few other organisms and is involved in recognition of transcription factors in the vicinity of 3'-end. Non-denaturating gel electrophoresis and CD spectroscopy of COMT sequences indicate the formation of hairpin type DNA structures. Temperature-dependent CD studies revealed an unusual shift in the slipped DNA-Hairpin DNA equilibrium with the change in temperature. Also, UV-thermal melting techniques suggest that the two base substitutions on the complementary strand of COMT19 did not affect the structure but reduces the stability of duplex. This study gives insight about the possibility of existing structurally polymorphic transient states within DNA segments present at the intersection of COMT and MIR4761 gene.

Keywords: base-substitution, catechol-o-methyltransferase (COMT), hairpin-DNA, structural polymorphism

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Authors: Eman G. Alayad, Mazen G. Aleyad, Mohammed Alshahrani, Ibrahim Alnaami

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Introduction: Cerebral venous thrombosis (CVT) is a rare type of cerebrovascular disease that can occur at any age. Patients with CVT commonly present with headache, focal neurological deficit, decreased level of consciousness and seizures. Many etiologic risk factors have been reported for CVT, high altitude and oral contraceptive pill some of them. Case Presentation: A 37-year-old woman living in Abha city in the southeastern area of Saudi Arabia. (about 10,000 feet-3000 m) over the sea. complaining acute onset of severe diffuse headache and generalized tonic clonic convulsions. Followed by loss of consciousness. She was on contraceptive pills for the last 3 years. No significant Medical or surgical history. Brain CT revealed subarachnoid hemorrhage, with MRI findings showing thrombosis in transvers sinus. There was no vascular malformations such as aneurysm, arteriovenous malformation (AVM), or dural arteriovenous fistula. A CVT with subarachnoid hemorrhage was our final diagnosis based on clinical presentation and radiographic findings. Discussion: Patients with CVT had evidence of cortical SAH by 10 of 233, others found 3% of SAH was caused by CVT, indicating that the presence of cortical SAH without involvement of the basal cisterns may provide an early sign of underlying CVT. However, what is more interesting in this case, is the relationship of high altitude with CVT and SAH, which previously undescribed. Conclusion: High-altitude climbing per se was described as a risk factor for the development of CVT, though its occurrence was probably rare. Whether it is primary in etiology due to high altitude induced hypercoagulable state of unknown origin or due to cerebrovascular disturbances there is a need for further investigation especially at this unusual presentation of subarachnoid hemorrhage.

Keywords: cerebral venous thrombosis, high-altitude, subarachnoid hemorrhage, stroke

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Authors: Vladyslav Povoroznyuk, Anna Musiienko, Nataliia Zaverukha, Roksolana Povoroznyuk

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Along with the global aging of population, the number of people with somatic diseases is increasing, including such interrelated pathologies as obesity, osteoarthritis (OA) and osteoporosis (OP). The objective of the study is to examine the connection between body mass index (BMI), OA and bone mineral density (BMD) of lumbar spine, femoral neck and trabecular bone score (TBS) in postmenopausal women with OA. We have observed 359 postmenopausal women (50-89 years old) and divided them into four groups by age: 50-59 yrs, 60-69 yrs, 70-79 yrs and over 80 years old. In addition, according to the American College of Rheumatology (ACR) Clinical classification criteria for knee and hip OA, we divided them into 2 groups: group I – 117 females with symptomatic OA (including 89 patients with knee OA, 28 patients with hip OA) and group II –242 women with a normal functional activity of large joints. Analysis of data was performed taking into account their BMI, classified by World Health Organization (WHO). Diagnosis of obesity was established when BMI was above 30 kg/m². In woman with obesity, a symptomatic OA was detected in 44 postmenopausal women (41.1%), a normal functional activity of large joints - in 63 women (58.9%). However, in women with normal BMI – 73 women, who account for 29.0% of cases, a symptomatic OA was detected. According to a chi-squared (χ2) test, a significantly higher level of BMI was detected in postmenopausal women with OA (χ2 = 5.05, p = 0.02). Women with a symptomatic OA had a significantly higher BMD of lumbar spine compared with women who had a normal functional activity of large joints. No significant differences of BMD of femoral necks or TBS were detected in either the group with OA or with a normal functional activity of large joints.

Keywords: bone mineral density, body mass index, obesity, overweight, postmenopausal women, osteoarthritis

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Authors: Naim Izet Kajtazi

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Context: Frequently, the cause of raised intracranial pressure remains unresolved and rarely is related to spinal tumors, moreover less to spinal medulloblastoma without primary brain focus. Process: An 18-year-old woman had a 3-month history of headaches and impaired vision. Neurological examination revealed bilateral sixth cranial nerve palsies with bilateral papilloedema of grade III. No focal brain or spine lesion was found on imaging. Consecutive lumbar punctures showed high opening pressure and subsequent increasing protein level. The meningeal biopsy was negative. At one point, she developed an increasing headache, vomiting and back pain. Spine MRI showed diffuse nodular leptomeningeal enhancement with the largest nodule at T6–T7. Malignant cells were detected in cerebrospinal fluid. She underwent laminectomy with excisional biopsy, and pathology showed medulloblastoma WHO grade IV. Outcome: She was treated with chemotherapy and craniospinal irradiation and made a good recovery. Relevance: Primary spinal leptomeningeal medulloblastoma is extremely rare, especially without primary brain focus, but may cause increased intracranial pressure, even in the early microscopic phases, and it should be considered in the differential diagnosis if conventional and aggressive treatment of idiopathic intracranial hypertension fails. We assume that arachnoiditis from tumor seeding caused increased intracranial pressure. Appropriate neurosurgical intervention and surgical biopsy are mandated if a suspicious lesion is detected. Consider proper rescreening of the whole neuroaxis in refractory cases of intracranial hypertension.

Keywords: CNS infection, IIH, headache, primary spinal leptomeningeal medulloblastoma

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Authors: Roshanak Farjad, Amirhossein Hosseini

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Fecal incontinence (FI) is a stressful condition for children and their parents that may affect the patient’s psychological well-being. Evaluating the patients’ psychological status may help physicians manage the disease effectively. This study aimed to assess the emotional and behavioral disturbances in children with FI who were referred to the pediatric gastroenterology clinic in Mofid Children’s Hospital from April 2021 to 2022. This cross-sectional study included children (over four years old) with chronic constipation and fecal incontinence. The diagnosis of chronic constipation and FI were made according to Rome-IV criteria. The Child Behavior Checklist (CBCL) evaluated patients’ emotional, behavioral, and social problems. One hundred one patients with a mean age of 7.96 years were enrolled in the study; 67.32% were males. According to CBCL, 12% (12 patients) indicated emotional and behavioral problems, with CBCL scores in the clinical or at-risk range. We detected anxious/depressed problems in five (4.95%), withdrawn/depressed problems in eight (7.92%), somatic complaints in seven (6.93%), social problems in eight (7.92%), thought problems in nine (8.91%), attention problems in seven (6.93%), rule-breaking behavior in two (1.98%), and aggressive behavior in nine (8.91%) patients. The risk of internalizing and externalizing disorders was reported in four (3.96%) and five (4.95%) patients. Also, eight (7.92%) and seven (6.93%) patients had clinical symptoms of internalizing and externalizing disorders, respectively. There was no significant relationship between patients’ age and gender with the CBCL scores in any subscales. However, there was a significant difference in the total score among the age groups (P = 0.04). The relatively high prevalence of emotional, behavioral, and social problems in our study corroborates the importance of psychological screening of children with FI during the treatment process.

Keywords: chronic constipation, child behavior checklist (CBCL), fecal incontinence, rome-IV criteria

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Authors: T. M. L. Hoang, G. Tan, S. D. Bhowmik, B. Williams, A. Johnson, M. R. Karbaschi, Y. Cheng, H. Long, S. G. Mundree

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Iron deficiency is a worldwide problem affecting both developed and developing countries. Currently, two major approaches namely iron supplementation and food fortification have been used to combat this issue. These measures, however, are limited by the economic status of the targeted demographics. Iron biofortification through genetic modification to enhance the inherent iron content and bioavailability of crops has been employed recently. Several important crops such as rice, wheat, and banana were reported successfully improved iron content via this method, but there is no known study in legumes. Chickpea (Cicer arietinum) is an important leguminous crop that is widely consumed, particularly in India where iron deficiency anaemia is prevalent. Chickpea is also an ideal pulse in the formulation of complementary food between pulses and cereals to improve micronutrient contents. This project aims at generating enhanced ion accumulation and bioavailability chickpea through the exogenous expression of genes related to iron transport and iron homeostasis in chickpea plants. Iron-Regulated Transport (IRT) and Ferritin genes in combination were transformed into chickpea half-embryonic axis by agrobacterium–mediated transformation. Transgenic independent event was confirmed by Southern Blot analysis. T3 leaves and seeds of transgenic chickpea were assessed for iron contents using LA-ICP-MS (Laser Ablation – Inductively Coupled Plasma Mass Spectrometry) and ICP-OES (Inductively Coupled Plasma Optical Emission Spectrometry). The correlation between transgene expression levels and iron content in T3 plants and seeds was assessed using qPCR. Results show that iron content in transgenic chickpea expressing the above genes significantly increased compared to that in non-transgenic controls.

Keywords: iron biofortification, chickpea, IRT, ferritin, Agrobacterium-mediated transformation, LA-ICP-MS, ICP-OES

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Authors: Dwitya Elvira, Eryati Darwin

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

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

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Authors: Zainab Alghali Elsaid Muhammed

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Background : IBS is a gastrointestinal disorder characterized by a variety of symptoms that occur concurrently. It is very common and is associated with high levels of psychiatric comorbidities, all of which have a negative impact on the patient's quality of life. Abdominal pain, diarrhea, constipation, excess gas, and bloating are common symptoms of IBS. Objectives : The purpose of this study is to determine the prevalence of IBS among medical students and intern doctors in Sudan, as well as the risk factors associated with it. Study design: This cross-sectional study was carried out in Sudan from April to July 2022. All participants completed a six-part online questionnaire. The ROME IV criteria questionnaire was used to make an IBS diagnosis. Participants completed the hospital anxiety and depression questionnaire in order to be diagnosed with anxiety and depression. Results : 600 participants filled out the questionnaire. The overall prevalence of IBS was found to be 42%, with females being the most affected. Intern doctors had higher IBS rates (30.0%) than medical students, but this was not statistically significant. Single status (p =0.079), good GPAs (p =0.00), had significant associations with IBS occurrence. Other significantly associated habits were sleeping less than 8 hours (p =0.013), two cups or less of coffee per day (p = 0.109), No smoking (p =0.001), and No exercise (p =0.00, IBS participants were also found to have a significant relationship with abnormal anxiety (p =0.00) and borderline depression (p=0.0156). Conclusion : The high prevalence of IBS in this study suggests that medical students and interns are unable to recognize their symptoms. The main IBS predictors in this study were suffering from anxiety or depression, having an insufficient income, sleeping less than 8 hours per day, working/ studying more than 8 hours per day, and not performing any type of exercise.

Keywords: irritable bowel syndrome, sudan, HADS, rome IV, medical students

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Authors: Alejandra Betancur Sánchez, Carmen Elena Zapata Sánchez, Juan Bautista López Ortiz

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Adverse effects and increased air pollution has raised concerns about regulatory policies and has fostered the development of new air quality standards; this is due to the complexity of the composition and the poorly understood reactions in the atmospheric environment. Toxic compounds act as environmental agents having various effects, from irritation to death of cells and tissues. A toxic agent is defined an adverse response in a biological system. There is a particular class that produces some kind of alteration in the genetic material or associated components, so they are recognized as genotoxic agents. Within cells, they interact directly or indirectly with DNA, causing mutations or interfere with some enzymatic repair processes or in the genesis or polymerization of proteinaceous material involved in chromosome segregation. An air pollutant may cause or contribute to increased mortality or serious illness and even pose a potential danger to human health. The aim of this study was to evaluate the effect on the viability and the genotoxic potential on the cell lines CHO-K1 and Jurkat and peripheral blood of particulate matter PM T lymphocytes 2.5 obtained from filters collected three monitoring stations network air quality Aburrá Valley. Tests, reduction of MTT, trypan blue, NRU, comet assay, sister chromatid exchange (SCE) and chromosomal aberrations allowed evidence reduction in cell viability in cell lines CHO-K1 and Jurkat and damage to the DNA from cell line CHOK1, however, no significant effects were observed in the number of SCEs and chromosomal aberrations. The results suggest that PM2.5 material has genotoxic potential and can induce cancer development, as has been suggested in other studies.

Keywords: PM2.5, cell line Jurkat, cell line CHO-K1, cytotoxicity, genotoxicity

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Authors: Shalu Jain, Anju Bansal, Anup Kumar, Sunita Saxena

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Objectives: The novel TMPRSS2:ERG gene fusion is a common somatic event in prostate cancer that in some studies is linked with a more aggressive disease phenotype. Thus, this study aims to determine whether clinical variables are associated with the presence of TMPRSS2:ERG-fusion gene transcript in Indian patients of prostate cancer. Methods: We evaluated the clinical variables with presence and absence of TMPRSS2:ERG gene fusion in prostate cancer and BPH association of clinical patients. Patients referred for prostate biopsy because of abnormal DRE or/and elevated sPSA were enrolled for this prospective clinical study. TMPRSS2:ERG mRNA copies in samples were quantified using a Taqman chemistry by real time PCR assay in prostate biopsy samples (N=42). The T2:ERG assay detects the gene fusion mRNA isoform TMPRSS2 exon1 to ERG exon4. Results: Histopathology report has confirmed 25 cases as prostate cancer adenocarcinoma (PCa) and 17 patients as benign prostate hyperplasia (BPH). Out of 25 PCa cases, 16 (64%) were T2: ERG fusion positive. All 17 BPH controls were fusion negative. The T2:ERG fusion transcript was exclusively specific for prostate cancer as no case of BPH was detected having T2:ERG fusion, showing 100% specificity. The positive predictive value of fusion marker for prostate cancer is thus 100% and the negative predictive value is 65.3%. The T2:ERG fusion marker is significantly associated with clinical variables like no. of positive cores in prostate biopsy, Gleason score, serum PSA, perineural invasion, perivascular invasion and periprostatic fat involvement. Conclusions: Prostate cancer is a heterogeneous disease that may be defined by molecular subtypes such as the TMPRSS2:ERG fusion. In the present prospective study, the T2:ERG quantitative assay demonstrated high specificity for predicting biopsy outcome; sensitivity was similar to the prevalence of T2:ERG gene fusions in prostate tumors. These data suggest that further improvement in diagnostic accuracy could be achieved using a nomogram that combines T2:ERG with other markers and risk factors for prostate cancer.

Keywords: prostate cancer, genetic rearrangement, TMPRSS2:ERG fusion, clinical variables

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Authors: Harshadkumar Rajgor, Jeff Butterworth

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

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

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