Search results for: prenatal diagnosis

Authors: Wissam Aljundi, Loay Daas, Yaser Abu Dail, Barbara Käsmann-Kellner, Berthold Seitz, Alaa Din Abdin

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Purpose: To investigate the effectiveness of nonsteroidal anti-inflammatory eye drops (NSAIDs) combined with oral acetazolamide for postoperative macular edema (PME) after uncomplicated phacoemulsification (PE) and to identify predictors of non-response. Methods: We analyzed data of uncomplicated PE and identified eyes with PME. First-line therapy included topical NSAIDs combined with oral acetazolamide. In case of non-response, triamcinolone was administered subtenonally. Outcome measures included best-corrected visual acuity (BCVA) and central macular thickness (CMT). Results: 94 eyes out of 9750 uncomplicated PE developed PME, of which 60 eyes were included. Follow-ups occurred 6.4±1.8, 12.5±3.7, and 18.6±6.0 weeks after diagnosis. BCVA and CMT improved significantly in all follow-ups. 40 eyes showed response to first-line therapy at first follow-up (G1). The remaining 20 eyes showed no response and required subtenon triamcinolone (G2), of which 11 eyes showed complete regression at the second follow-up and 4 eyes at the third follow-up. 5 eyes showed no response and required intravitreal injection. Multivariate linear regression model showed that diabetes mellitus (DM) and increased cumulative dissipated energy (CDE) are predictors of non-response. Conclusion: Topical NSAIDs with acetazolamide resulted in complete regression of PME in 67% of all cases. DM and increased CDE might be considered as predictors of nonresponse to this treatment.

Keywords: postoperative macular edema, intravitreal injection, cumulative energy, irvine gass syndrome, pseudophakie

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Authors: Hanh Thi My Nguyen

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The purpose of this research is to examine the experiences of parents of children who are deaf or hard of hearing in supporting their children to access education in Vietnam. Parents play a crucial role in supporting their children to gain full access to education. It was widely reported that parents of those children confronted a range of problems to support their children to access education. To author’s best knowledge, there has been a lack of research exploring the experiences of those parents in literature. This research examines factors affecting those parents in supporting their children to access education. To conduct the study, qualitative approach using a phenomenological research design was chosen to explore the central phenomena. Ten parents of children who were diagnosed as deaf or hard of hearing and aged 6-9 years were recruited through the support of the Association of Parents of Children with Hearing Impairment. Participants were interviewed via telephone with a mix of open and closed questions; interviews were audio recorded, transcribed and thematically analysed. The research results show that there are nine main factors that affected the parents in this study in making decisions relating to education for their children including: lack of information resources, perspectives of those parents on communication approaches, the families’ financial capacity, the psychological impact on the participants after their children’ diagnosis, the attitude of family members, attitude of school administrators, lack of local schools and qualified teachers, and current education system for the deaf in Vietnam. Apart from those factors, the lack of knowledge of the participants’ partners about deaf education and the partners’ employment are barriers to educational access and successful communication with their child.

Keywords: access to education, deaf, hard of hearing, parents experience

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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: 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: 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: 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: Sumeeta Khurana, Kirti Megha, Amit Gupta, Rakesh Sehgal

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Background: Amoebic keratitis is a painful vision threatening infection caused by a free living pathogenic amoeba Acanthamoeba. It can be misdiagnosed and very difficult to treat if not suspected early. The epidemiology of Acanthamoeba genotypes causing infection in our geographical area is not yet known to the best of our knowledge. Objective: To characterize Acanthamoeba isolates from amoebic keratitis patients. Methods: A total of 19 isolates obtained from patients with amoebic keratitis presenting to the Advanced Eye Centre at Postgraduate Institute of Medical Education and Research, a tertiary care centre of North India over a period of last 10 years were included. Their corneal scrapings, lens solution and lens case (in case of lens wearer) were collected for microscopic examination, culture and molecular diagnosis. All the isolates were maintained in the Non Nutrient agar culture medium overlaid with E.coli and 13 strains were axenised and maintained in modified Peptone Yeast Dextrose Agar. Identification of Acanthamoeba genotypes was based on amplification of diagnostic fragment 3 (DF3) region of the 18srRNA gene followed by sequencing. Nucleotide similarity search was performed by BLAST search of sequenced amplicons in GenBank database (http//www.ncbi.nlm.nih.gov/blast). Multiple Sequence alignments were determined by using CLUSTAL X. Results: Nine out of 19 Acanthamoeba isolates were found to belong to Genotype T4 followed by 6 isolates of genotype T11, 3 T5 and 1 T3 genotype. Conclusion: T4 is the predominant Acanthamoeba genotype in our geographical area. Further studies should focus on differences in pathogenicity of these genotypes and their clinical significance.

Keywords: Acanthamoeba, free living amoeba, keratitis, genotype, ocular

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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: 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: 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: 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: 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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Authors: Angeliki Vassila, Dimitrios Kalogeropoulos, Rania Rawashdeh, Nigel Hall, Najiha Rahman, Mark Fabian, Suresh Thulasidharan, Hossain Parwez

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Introduction: Necrotising scleritis is a severe form of scleritis and poses a significant threat to vision. It can manifest in various systemic autoimmune disorders, systemic vasculitis, or as a consequence of microbial infections. The objective of this study is to present a case of necrotizing scleritis associated with scleroderma, which was further complicated by a secondary Staphylococcus epidermidis infection. Methods: This is a retrospective analysis that examines the medical records of a patient who was hospitalised in the Eye Unit at University Hospital Southampton. Results: A 78-year-old woman presented at the eye casualty department of our unit with a two-week history of progressively worsening pain in her left eye. She received a diagnosis of necrotising scleritis and was admitted to the hospital for further treatment. It was decided to commence a three-day course of intravenous methylprednisolone followed by a tapering regimen of oral steroids. Additionally, a conjunctival swab was taken, and two days later, it revealed the presence of S. epidermidis, indicating a potential secondary infection. Given this finding, she was also prescribed topical (Ofloxacin 0.3% - four times daily) and oral (Ciprofloxacin 750mg – twice daily) antibiotics. The inflammation and symptoms gradually improved, leading to the patient being scheduled for a scleral graft and applying an amniotic membrane to cover the area of scleral thinning. Conclusions: Rheumatoid arthritis and granulomatosis with polyangiitis are the most commonly identifiable systemic diseases associated with necrotising scleritis. Although association with scleroderma is extremely rare, early identification and treatment are necessary to prevent scleritis-related complications.

Keywords: scleritis, necrotizing scleritis, scleroderma, autoimmune disease

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Authors: Yao Song

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Objectives: We aimed to explore the clinicodemographic characteristics and prognosis of grey zone squamous cell cancer (GZSCC) located in the overlapping or ambiguous area of the oral cavity and oropharynx and to identify valuable factors that would improve its differential diagnosis and prognosis. Methods: Information of GZSCC patients in the Surveillance, Epidemiology, and End Results (SEER) database was compared to patients with an oral cavity (OCSCC) and oropharyngeal (OPSCC) squamous cell carcinomas with corresponding HPV status, respectively. Kaplan-Meier method with log-rank test and multivariate Cox regression analysis were applied to assess associations between clinical characteristics and overall survival (OS). A predictive model integrating age, gender, marital status, HPV status, and staging variables was conducted to classify GZSCC patients into three risk groups and verified internally by 10-fold cross validation. Results: A total of 3318 GZSCC, 10792 OPSCC, and 6656 OCSCC patients were identified. HPV-positive GZSCC patients had the best 5-year OS as HPV-positive OPSCC (81% vs. 82%). However, the 5-year OS of HPV-negative/unknown GZSCC (43%/42%) was the worst among all groups, indicating that HPV status and the overlapping nature of tumors were valuable prognostic predictors in GZSCC patients. Compared with the strategy of dividing GZSCC into two groups by HPV status, the predictive model integrating more variables could additionally identify a unique high-risk GZSCC group with the lowest OS rate. Conclusions: GZSCC patients had distinct clinical characteristics and prognoses compared with OPSCC and OCSCC; integrating HPV status and other clinical factors could help distinguish GZSCC and predict their prognosis.

Keywords: GZSCC, OCSCC, OPSCC, HPV

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Authors: Damaris Estrella Castillo, Zacil ha Vilchis Zapata, Leydi Peraza Gómez

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Hearing loss is an etiologically heterogeneous condition, where almost 60% is genetic in origin, 20% is due to environmental factors, and 20% have unknown causes. However, it is now known that the gene, GJB2, which encodes the connexin 26 protein, accounts for a large percentage of non-syndromic genetic hearing loss, and variants in this gene have been identified to be a common cause of hereditary hearing loss in many populations. The literature reports that the etiology in deafness helps improve family functioning but low-income countries this is difficult. Therefore, it is difficult to contribute the right of families to know about the genetic risk in future pregnancies as well as determining the certainty of being a carrier or affected. In order to assess the impact of genetic counseling and the functionality, 100 families with at least one child with profound hearing loss, were evaluated by specialists in audiology, clinical genetics and psychology. Targeted mutation analysis for one of the two known large deletions of upstream of GJB2/GJB6 gene (35delG; and including GJB2 regulatory sequences and GJB6) were performed in patients with diagnosis of non-syndromic hearing loss. Genetic counseling was given to all parents and primary caregivers, and APGAR family test was applied before and after the counseling. We analyzed a total of 300 members (children, parents) to determine the presence of the GJB2 gene mutation. Twelve patients (carriers and affected) were positive for the mutation, from 5 different families. The subsequent family APGAR testing and genetic counseling, showed that 14% perceived their families as functional, 62 % and 24 % moderately functional dysfunctional. This shows the importance of genetic counseling in the perception of family function that can directly impact the quality of life of these families.

Keywords: family dynamics, deafness, APGAR, counseling

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Authors: Sonal Sethi, Mukesh Yadav, Abhimanyu Gupta

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The upcoming field of radiogenomics has the potential to upgrade the role of imaging in lung cancer management by noninvasive characterization of tumor histology and genetic microenvironment. Receptor positivity like epidermal growth factor receptor (EGFR) and anaplastic lymphoma kinase (ALK) genotyping are critical in lung adenocarcinoma for treatment. As conventional identification of receptor positivity is an invasive procedure, we analyzed the features on non-invasive computed tomography (CT), which predicts the receptor positivity in lung adenocarcinoma. Retrospectively, we did a comprehensive study from 77 proven lung adenocarcinoma patients with CT images, EGFR and ALK receptor genotyping, and clinical information. Total 22/77 patients were receptor-positive (15 had only EGFR mutation, 6 had ALK mutation, and 1 had both EGFR and ALK mutation). Various morphological characteristics and metastatic distribution on CT were analyzed along with the clinical information. Univariate and multivariable logistic regression analyses were used. On multivariable logistic regression analysis, we found spiculated margin, lymphangitic spread, air bronchogram, pleural effusion, and distant metastasis had a significant predictive value for receptor mutation status. On univariate analysis, air bronchogram and pleural effusion had significant individual predictive value. Conclusions: Receptor positive lung cancer has characteristic imaging features compared with nonreceptor positive lung adenocarcinoma. Since CT is routinely used in lung cancer diagnosis, we can predict the receptor positivity by a noninvasive technique and would follow a more aggressive algorithm for evaluation of distant metastases as well as for the treatment.

Keywords: lung cancer, multidisciplinary cancer care, oncologic imaging, radiobiology

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Authors: Mouktafi Amine, Tahiri Asmaa

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A substantial number of traditional medical research has been put forward to managing and treating mental disorders. At the present time, to our best knowledge, it is believed that a fundamental understanding of the underlying causes of the majority of psychological disorders needs to be explored further to inform early diagnosis, managing symptoms and treatment. The emerging field of evolutionary psychology is a promising prospect to address the origin of mental disorders, potentially leading to more effective treatments. Schizophrenia as a topical mental disorder has been linked to the evolutionary adaptation of the human brain represented in the brain connectivity and asymmetry directly linked to humans' higher brain cognition in contrast to other primates being our direct living representation of the structure and connectivity of our earliest common African ancestors. As proposed in the evolutionary psychology scientific literature, the pathophysiology of schizophrenia is expressed and directly linked to altered connectivity between the Hippocampal Formation (HF) and Dorsolateral Prefrontal Cortex (DLPFC). This research paper presents the results of the use of tractography analysis using multiple open access Diffusion Weighted Imaging (DWI) datasets of healthy subjects, schizophrenia-affected subjects and primates to illustrate the relevance of the aforementioned brain regions' connectivity and the underlying evolutionary changes in the human brain. Deterministic fiber tracking and streamline analysis were used to generate connectivity matrices from the DWI datasets overlaid to compute distances and highlight disconnectivity patterns in conjunction with other fiber tracking metrics: Fractional Anisotropy (FA), Mean Diffusivity (MD) and Radial Diffusivity (RD).

Keywords: tractography, diffusion weighted imaging, schizophrenia, evolutionary psychology

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Authors: José Nogueira

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This research aims to analyze the impact of autism spectrum disorders (ASD) in families with children and youth (0-25 years) with ASD in Portugal. The impact will be evaluated on a multidimensional perspective, following the work on the concept of quality life from WHOQOL Group (UN). The study includes quantitative and qualitative methodology. It correlates statistical sources and other information with the data obtained through a survey of a sample of about 100 families with children/youth with ASD (October and November 2013). The results indicate a strong impact of autism on the quality of life for families in all study dimensions. The research shows a negative impact on quality of life for families in material and financial conditions, physical and emotional well-being, career progression, feelings of injustice, social participation and self-perception of happiness. The quality of life remained in the relationship with the family and the spouse, interpersonal relationships and beliefs about himself. The ASD improved the quality of life aspects such as interest, knowledge and exercise of rights on disability, autonomy to make decisions and be able to deal with stress. Other dimensions are contemplated: a detailed characterization of the child/young with ASD and all family members (household composition, relationship status, academic qualifications, occupation, income, and leisure) the impact of diagnosis in the family wellbeing, medical and therapeutic processes, school inclusion, public support, social participation, and the adequacy and implementation of legislation. The study evaluates also the strengths and weaknesses of the Portuguese public rehabilitation system and demonstrates how a good law-in-theory may not solve the problems of families in practice due to the allocation of insufficient public resources, both financial and human resources.

Keywords: autism, families, quality of life, autism spectrum disorder

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