Search results for: rare disorders

Authors: Emily Wood, James K. Westphal, Itamar Lerner

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Background: Polysomnography (PSG) recordings are regularly used in research and clinical settings to study sleep and sleep-related disorders. Typical PSG studies are conducted in professional laboratories and performed by qualified researchers. However, the number of sleep labs worldwide is disproportionate to the increasing number of individuals with sleep disorders like sleep apnea and insomnia. Consequently, there is a growing need to supply cheaper yet reliable means to measure sleep, preferably autonomously by subjects in their own home. Over the last decade, a variety of devices for self-monitoring of sleep became available in the market; however, very few have been directly validated against PSG to demonstrate their ability to perform reliable automatic sleep scoring. Two popular mobile EEG-based systems that have published validation results, the DREEM 3 headband and the Z-Machine, have never been directly compared one to the other by independent researchers. The current study aimed to compare the performance of DREEM 3 and the Z-Machine to help investigators and clinicians decide which of these devices may be more suitable for their studies. Methods: 26 participants have completed the study for credit or monetary compensation. Exclusion criteria included any history of sleep, neurological or psychiatric disorders. Eligible participants arrived at the lab in the afternoon and received the two devices. They then spent two consecutive nights monitoring their sleep at home. Participants were also asked to keep a sleep log, indicating the time they fell asleep, woke up, and the number of awakenings occurring during the night. Data from both devices, including detailed sleep hypnograms in 30-second epochs (differentiating Wake, combined N1/N2, N3; and Rapid Eye Movement sleep), were extracted and aligned upon retrieval. For analysis, the number of awakenings each night was defined as four or more consecutive wake epochs between sleep onset and termination. Total sleep time (TST) and the number of awakenings were compared to subjects’ sleep logs to measure consistency with the subjective reports. In addition, the sleep scores from each device were compared epoch-by-epoch to calculate the agreement between the two devices using Cohen’s Kappa. All analysis was performed using Matlab 2021b and SPSS 27. Results/Conclusion: Subjects consistently reported longer times spent asleep than the time reported by each device (M= 448 minutes for sleep logs compared to M= 406 and M= 345 minutes for the DREEM and Z-Machine, respectively; both ps<0.05). Linear correlations between the sleep log and each device were higher for the DREEM than the Z-Machine for both TST and the number of awakenings, and, likewise, the mean absolute bias between the sleep logs and each device was higher for the Z-Machine for both TST (p<0.001) and awakenings (p<0.04). There was some indication that these effects were stronger for the second night compared to the first night. Epoch-by-epoch comparisons showed that the main discrepancies between the devices were for detecting N2 and REM sleep, while N3 had a high agreement. Overall, the DREEM headband seems superior for reliably scoring sleep at home.

Keywords: DREEM, EEG, seep monitoring, Z-machine

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Authors: Caixiu Pu, Zhen Chen

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We present the rare case of umbilical arterial atresia, leading to a good outcome and provide clinical and pathological findings. A 27-year-old nulliparous first gravida with PGDM was found single umbilical artery(SUA) by routine ultrasound san at 30 weeeks of gestation. Fetal status was monitored weekly. A healthy male newborn was delivered by cesarean section at 39 weeks. The umbilical cord was overly twisted and no thrombus was found along the whole diseased vessel. The cause of umbilical arterial atresia was unclear, and the correct diagnosis was a challenge. Expected clinical management was recommended, in which sonographic diagnosis may play a very important part.

Keywords: pregnancy, single umbilical artery, umbilical arterial atresia, prenatal diagnosis

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Authors: A. Al Yousef, A. Toulon, L. Petit, S. Fraitag, F. Ruemmele, S. Hadj-Rabia, C. Bodemer

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Cutaneous Crohn’s disease (CCD) refers to an extremely rare granulomatous inflammation of the skin that is non-contiguous to the bowel tract. These cutaneous lesions can occur prior to, concurrent with, or after the gastrointestinal manifestations. In adults, CCD most frequently occurs in the setting of well-documented intestinal disease. Only 20% of cases occur prior to its development. Review of CCD in children, reveals that 86% of cases (24 of 28) occurring in patients without a known diagnosis of intestinal Crohn’s disease. Overall, the genitalia was the most commonly involved location, representing 21 of the 28 cases with 16 vulvar and 5 penile/scrotal lesions.

Keywords: Crohn’s disease, cutaneous manifestations, children, atypical axillary involvement

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Authors: Eva Masson, Andrea Kübler

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Anxiety disorders (AD) are the most prevalent psychological disorders. However, far from most affected individuals are diagnosed and receive treatment. This gap is probably due to the diagnosis criteria, relying on symptoms (according to the DSM-5 definition) with no objective biomarker. Approach-avoidance conflict tasks are one common approach to simulate such disorders in a lab setting, with most of the paradigms focusing on the relationships between behavior and neurophysiology. Approach-avoidance conflict tasks typically place participants in a situation where they have to make a decision that leads to both positive and negative outcomes, thereby sending conflicting signals that trigger the Behavioral Inhibition System (BIS). Furthermore, behavioral validation of such paradigms adds credibility to the tasks – with overt conflict behavior, it is safer to assume that the task actually induced a conflict. Some of those tasks have linked asymmetrical frontal brain activity to induced conflicts and the BIS. However, there is currently no consensus for the direction of the frontal activation. The authors present here a modified version of the T-Maze paradigm, a motivational conflict desktop task, in which behavior is recorded simultaneously to the recording of high-density EEG (HD-EEG). Methods: In this within-subject design, HD-EEG and behavior of 35 healthy participants was recorded. EEG data was collected with a 128 channels sponge-based system. The motivational conflict desktop task consisted of three blocks of repeated trials. Each block was designed to record a slightly different behavioral pattern, to increase the chances of eliciting conflict. This variety of behavioral patterns was however similar enough to allow comparison of the number of trials categorized as ‘overt conflict’ between the blocks. Results: Overt conflict behavior was exhibited in all blocks, but always for under 10% of the trials, in average, in each block. However, changing the order of the paradigms successfully introduced a ‘reset’ of the conflict process, therefore providing more trials for analysis. As for the EEG correlates, the authors expect a different pattern for trials categorized as conflict, compared to the other ones. More specifically, we expect an elevated alpha frequency power in the left frontal electrodes at around 200ms post-cueing, compared to the right one (relative higher right frontal activity), followed by an inversion around 600ms later. Conclusion: With this comprehensive approach of a psychological mechanism, new evidence would be brought to the frontal asymmetry discussion, and its relationship with the BIS. Furthermore, with the present task focusing on a very particular type of motivational approach-avoidance conflict, it would open the door to further variations of the paradigm to introduce different kinds of conflicts involved in AD. Even though its application as a potential biomarker sounds difficult, because of the individual reliability of both the task and peak frequency in the alpha range, we hope to open the discussion for task robustness for neuromodulation and neurofeedback future applications.

Keywords: anxiety, approach-avoidance conflict, behavioral inhibition system, EEG

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Authors: Angelis P. Barlampas

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

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

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Authors: Stephanie Cornish

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The use of synthetic dermal templates, also known as dermal matrices, such as PolyNovo® Biodegradable Temporising Matrix (BTM), has been well established in the reconstruction of acute wounds with a full thickness defect of the skin. Its use has become common place in the treatment of full thickness burns and is not unfamiliar in the realm of necrotising fasciitis, free flap donor site reconstruction, and the management of acute traumatic wounds. However, the use of dermal templates for more chronic wounds is rare. The authors present the successful use of BTM in the reconstruction of a chronic scalp wound following the excision of a malignancy and multiple previous failed attempts at repair, thus demonstrating the potential for an increased scope of use.

Keywords: dermal template, BTM, chronic, scalp wound, reconstruction

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Authors: M. Olmedilla, M. R. Martinez-Torres, S. L. Toral

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Electronic Word-Of-Mouth (eWOM) communities represent today an important source of information in which more and more customers base their purchasing decisions. They include thousands of reviews concerning very different products and services posted by many individuals geographically distributed all over the world. Due to their massive audience, eWOM communities can help users to find the product they are looking for even if they are less popular or rare. This is known as the long tail effect, which leads to a larger number of lower-selling niche products. This paper analyzes the long tail effect in a well-known eWOM community and defines a tool for finding niche products unavailable through conventional channels.

Keywords: eWOM, online user reviews, long tail theory, product categorization, social network analysis

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Authors: Henry Venter, Murali Thyloth, Alceu Casseb

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Historically, mental and substance use disorders were not a global health priority. Since the 1993 World Development Report, the importance of the contribution of mental health and substance abuse on the relative global burden associated with disease morbidity has been recognized with 300 million people worldwide suffering from depression alone. This led to an international effort to improve the mental health of populations around the world. Despite these efforts some countries remain at the top of the list of countries with the highest rate of mental illness. Important research questions were asked: Would there be commonalities regarding mental health between these countries; would there be common factors leading to the high prevalence of mental illness; and how prepared are these countries with mental health delivery? Findings from this research can aid organizations and institutions preparing mental health service providers to focus training and preparation to address specific needs revealed by the study. Methods: Researchers decided to compare three distinctly different countries at the top of the list of countries with the highest rate of mental illness, the USA, India and Brazil, situated on three different continents with different economies and lifestyles. Data were collected using archival research methodology, reviewing records and findings of international and national health and mental health studies to subtract and compare data and findings. Results: The findings indicated that India is the most depressed country in the world, followed by the USA (and China) with Brazil in Latin America with the greatest number of depressed individuals. By 2020 roughly 20% of India, acountry of over one billion citizens, will suffer from some form of mental illnees, yet there are less than 4,000 experts available. In the USA 164.8 million people were substance abusers and an estimate of 47.6 million adults, 18 or older, had any mental illness in 2018. That means that about one in five adults in the USA experiences some form of mental illness each year, but only 41% of those affected received mental health care or services in the past year. Brazil has the greatest number of depressed individuals, in Latin America. Adults living in Sao Paulo megacity has prevalence of mental disorders at greater levels than similar surveys conducted in other areas of the world with more than one million adults with serious impairment levels. Discussion: The results show that, despite the vast socioeconomic differences between the three countries, there are correlations regarding mental health prevalence and difficulty to provide adequate services including a lack of awareness of how serious mental illness is, stigma for seeking mental illness, with comorbidity a common phenomenon, and a lack of partnership between different levels of service providers, which weakens mental health service delivery. The findings also indicate that mental health training institutions have a monumental task to prepare personnel to address the future mental health needs in each of the countries compared, which will constitute the next phase of the research.

Keywords: mental health epidemiology, mental health disorder, mental health prevalence, mental health treatment

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Authors: Faisal A. Salih

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Vinpocetine (Vin) is an ethyl ester of apovincamic acid and is a semisynthetic derivative of vincamine, an alkaloid from plants of the genus Periwinkle (plant) vinca minor. It was found that this compound stimulates cerebral metabolism: it increases the uptake of glucose and oxygen, as well as the consumption of these substances by the brain tissue. Vinpocetine enhances the flow of blood in the brain and has a vasodilating, antihypertensive, and antiplatelet effect. Vinpocetine seems to improve the human ability to acquire new memories and restore memories that have been lost. This drug has been clinically used for the treatment of cerebrovascular disorders such as stroke and dementia memory disorders, as well as in ophthalmology and otorhinolaryngology. It has no side effects, and no toxicity has been reported when using vinpocetine for a long time. For the quantitative determination of Vin in dosage forms, the HPLC methods are generally used. A promising alternative is potentiometry with Vin- selective electrode, which does not require expensive equipment and materials. Another advantage of the potentiometric method is that the pills and solutions for injections can be used directly without separation from matrix components, which reduces both analysis time and cost. In this study, it was found that the choice of a good plasticizer an electrode with the following membrane composition: PVC (32.8 wt.%), ortho-nitrophenyl octyl ether (66.6 wt.%), tetrakis-4-chlorophenyl borate (0.6 wt.%) exhibits excellent analytical performance: lower detection limit (LDL) 1.2•10⁻⁷ M, linear response range (LRR) 1∙10⁻³–3.9∙10⁻⁶ M, the slope of the electrode function 56.2±0.2 mV/decade). Vin masses per average tablet weight determined by direct potentiometry (DP) and potentiometric titration (PT) methods for the two different sets of 10 tablets were (100.35±0.2–100.36±0.1) mg for two sets of blister packs. The mass fraction of Vin in individual tablets, determined using DP, was (9.87 ± 0.02–10.16 ±0.02) mg, while the RSD was (0.13–0.35%). The procedure has very good reproducibility, and excellent compliance with the declared amounts was observed.

Keywords: vinpocetine, potentiometry, ion selective electrode, pharmaceutical analysis

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Authors: Nassima Elyebdri, Asma Boumediou, Soumia Addoun

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Traditional medicine has been part of the Algerian culture for decades. In particular, the city of Tlemcen still retains practices based on phytotherapy to the present day, as this kind of medicine fulfills the needs of its followers among the local population. The toxic plants contain diverse natural substances which supplied a lot of medicine in the pharmaceutical industry. In order to explore new medicinal sources among toxic plants, an ethnobotanical study was carried out on the use of these plants by the population, at Emir Abdelkader Square of the city of Tlemcen, a rather busy place with a high number of traditional health practitioners and herbalists. This is a descriptive and transversal study aimed at estimating the frequency of using toxic plants among the studied population, for a period of 4 months. The information was collected, using self-anonymous questionnaires, and analyzed by the IBM SPSS Statistics software used for statistical analysis. A sample of 200 people, including 120 women and 80 men, were interviewed. The mean age was 41 ± 16 years. Among those questioned, 83.5% used plants; 8% of them used toxic plants and 35% used plants that can be toxic under certain conditions. Some improvements were observed in 88% of the cases where toxic plants were used. 80 medicinal plants, belonging to 36 botanical families, were listed, identified and classified. The most frequent indications for these plants were for respiratory diseases in 64.7% of cases, and for digestive disorders in 51.5% of cases. 11% of these plants are toxic, 26% could be toxic under certain conditions. Among toxics plants, the most common ones are Berberis vulgaris with 5.4%, indicated in the treatment of uterine fibroids and thyroid, Rhamnus alaternus with 4.8% for hepatic jaundice, Nerium oleander with 3% for hemorrhoids, Ruta chalepensis with 1.2%, indicated for digestive disorders and dysmenorrhea, and Viscum album with 1.2%, indicated for respiratory diseases. The most common plants that could be toxic are Mentha pulegium (15.6%), Eucalyptus globulus (11.4%), and Pimpinella anisum (10.2%). This study revealed interesting results on the use of toxic plants, which are likely to serve as a basis for further ethno-pharmacological investigations in order to get new drug sources.

Keywords: ethnobotany, phytotherapy, Tlemcen, toxic plants

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Authors: Scholastic Nangila Adeli, Francisca Mbutitia Ngithi

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Stigma is commonly associated with mental health patients and may act as a barrier to individuals who may seek or engage in treatment services. Stigmatization among university students is common whether they know someone with a mental health problem, or have a good knowledge and experience of mental health issues. The objective of this study was to establish the various barriers that prevent university students who have mental health challenges from seeking treatment and care. The study was a descriptive in nature where 320 respondents helped to establish the barriers to treatment or participation in mental health care among university students. A questionnaire was used to help establish the barriers and attitude towards mental illness among the respondents. Results from this study revealed that mental illnesses are common among university students and they are manifested in different forms like; anxiety and panic attacks, mood and eating disorders, Impulse control leading to gambling, alcohol and drug addictions, anger and depression leading to loneliness. Mental stigma (both social and self) was the major barrier with 62% of the respondents stating that social stigma was worse than self-stigma. This is because of the social discrimination towards the victim of mental challenges. On issues of attitude, 71% of the respondents said that they can never admit that they have a mental issue and would rather secretly seek clinical or psychological help for fear of being discriminated or excluded by peers. This view is informed by the societal belief that people with mental health challenges were dangerous (associating them with criminal behavior) and hard to socialize with or help. From the findings of this study, it is concluded that mental health problems are real among university students in Kenya and it is important for the university environment to minimize or eradicate stigma within the social circles. Stigma can be minimized or eradicated by creating awareness among university students and fostering social inclusion so that the students who have mental health challenges can experience a sense of belonging and acceptance hence build their self-esteem.

Keywords: disorders, impulse control, mental health problems, stigma

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Authors: Zoltán Höhling, Sarah-Lu Oberschelp, Niklas Gilsdorf, Michael Wirsching, Andrea Kuhnert

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A majority of medical students at the University of Freiburg reported stress-related psychosomatic symptoms which are often associated with their studies. International research supports these findings, as medical students worldwide seem to be at special risk for mental health problems. In some countries and institutions, psychologically based interventions that assist medical students in coping with their stressors have been implemented. It turned out that anonymity is an important aspect here. Many students fear a potential damage of reputation when being associated with mental health problems, which may be due to a high level of competitiveness in classes. Therefore, we launched an online-platform where medical students could anonymously seek help and exchange their experiences with fellow students and experts. Medical students of all semesters have access to it through the university’s learning management system (called “ILIAS”). The informative part of the platform consists of exemplary videos showing medical students (actors) who act out scenes that demonstrate the antecedents of stress-related psychosomatic disorders. These videos are linked to different expert comments, describing the exhibited symptoms in an understandable and normalizing way. The (inter-)active part of the platform consists of self-help tools (such as meditation exercises or general tips for stress-coping) and an anonymous interactive forum where students can describe their stress-related problems and seek guidance from experts and/or share their experiences with fellow students. Besides creating an immediate proposal to help affected students, we expect that competitiveness between students might be diminished and bondage improved through mutual support between them. In the initial phase after the platform’s launch, it was accessed by a considerable number of medical students. On a closer look it appeared that platform sections like general information on psychosomatic-symptoms and self-treatment tools were accessed far more often than the online-forum during the first months after the platform launch. Although initial acceptance of the platform was relatively high, students showed a rather passive way of using our platform. While user statistics showed a clear demand for information on stress-related psychosomatic symptoms and its possible remedies, active engagement in the interactive online-forum was rare. We are currently advertising the platform intensively and trying to point out the assured anonymity of the platform and its interactive forum. Our plans, to assure students their anonymity through the use of an e-learning facility and promote active engagement in the online forum, did not (yet) turn out as expected. The reasons behind this may be manifold and based on either e-learning related issues or issues related to students’ individual needs. Students might, for example, question the assured anonymity due to a lack of trust in the technological functioning university’s learning management system. However, one may also conclude that reluctance to discuss stress-related psychosomatic symptoms with peer medical students may not be solely based on anonymity concerns, but could be rooted in more complex issues such as general mistrust between students.

Keywords: e-tutoring, stress-coping, student support, online forum

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Authors: Chao-Ming Su, Pei-Sheng Wu, Yu-Chi Kuo, Yin-Chou Huang, Tan-Yueh Chen, Jefunnie Matahum, Tzong-Rong Ger

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Application of magnetic particles (MPs) has been applied in biomedical field for many years. There are lots of advantages through this mediator including high biocompatibility and multi-diversified bio-applications. However, current techniques for evaluating the quantity of the magnetic-labeled sample assays are rare. In this paper, a Wheatstone bridge giant magnetoresistance (GMR) sensor integrated with a homemade detecting system was fabricated and used to quantify the concentration of MPs. The homemade detecting system has shown high detecting sensitivity of 10 μg/μl of MPs with optimized parameter vertical magnetic field 100 G, horizontal magnetic field 2 G and flow rate 0.4 ml/min.

Keywords: magnetic particles, magnetoresistive sensors, microfluidics, biosensor

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Authors: Parvin Mirmiran, Zahra Bahadoran, Sahar Mirzae, Fereidoun Azizi

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Background and aim: Lifestyle factors, especially dietary intakes play an important role in metabolism of lipids and lipoproteins. In this study, we assessed the association between dietary factors and 3-year changes of serum triglycerides (TG), HDL-C and the atherogenic index of plasma among Iranian adults. This longitudinal study was conducted on 1938 subjects, aged 19-70 years, who participated in the Tehran Lipid and Glucose Study. Demographics, anthropometrics and biochemical measurements including serum TG were assessed at baseline (2006-2008) and after a 3-year follow-up (2009-2011). Dietary data were collected by using a 168-food item, validated semi-quantitative food frequency questionnaire at baseline. The risk of hypertriglyceridemia in the quartiles of dietary factors was evaluated using logistic regression models with adjustment for age, gender, body mass index, smoking, physical activity and energy intakes. Results: Mean age of the participants at baseline was 41.0±13.0 y. Mean TG and HDL-C at baseline was 143±86 and 42.2±10.0 mg/dl, respectively. Three-year change of serum TG were inversely related energy intake from phytochemical rich foods, whole grains, and legumes (P<0.05). Higher intakes compared to lower ones of dietary fiber and phytochemical-rich foods had similar impact on decreased risk of hyper-triglyceridemia (OR=0.58, 95% CI=0.34-1.00). Higher- compared to lower-dietary sodium to potassium ratios (Na/K ratio) increased the risk of hypertriglyceridemia by 63% (OR=0.1.63, 95% CI= 0.34-1.00). Conclusion: Findings showed that higher intakes of fiber and phytochemical rich foods especially whole grain and legumes could have protective effects against lipid disorders; in contrast higher sodium to potassium ratio had undesirable effect on triglycerides.

Keywords: lipid disorders, hypertriglyceridemia, diet, food science

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Authors: Kamaladevi Kunkolienker

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This paper appreciates the stimulating and thought-provoking synthesis of Heraclitus’ philosophy offered by Sri Aurobindo. The deep philosophical insights of Heraclitus expressed in aphoristic and cryptic form inspired him and supported his system of Integral Yoga. An attempt is made to reconstruct and synthesize Eastern and Western philosophical insights through hermeneutical treatment of many concepts. Aurobindo points out the sameness and kinship between Heraclitus’ thought and concepts from Vedic and upanishadic texts with illustrations and thus undertakes the task of synthesizing them. This fruitful synthesis also brings out the scientific perspective of Heraclitus’ thought and showcases it as a rare flowering of philosophy. It also enables the thinkers to reflect, reinterpret and synthesize such philosophies to bring out their significance in post-modern philosophy and science.

Keywords: all, change, fire, one

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Authors: N. C. van der Merwe, J. Oosthuizen, M. F. Makhetha, J. Adams, B. K. Dajee, S-R. Schneider

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Women representing high-risk breast cancer families, who tested negative for pathogenic mutations in BRCA1 and BRCA2, are four times more likely to develop breast cancer compared to women in the general population. Sequencing of genes involved in genomic stability and DNA repair led to the identification of novel contributors to familial breast cancer risk. These include BLM and PALB2. Bloom's syndrome is a rare homozygous autosomal recessive chromosomal instability disorder with a high incidence of various types of neoplasia and is associated with breast cancer when in a heterozygous state. PALB2, on the other hand, binds to BRCA2 and together, they partake actively in DNA damage repair. Archived DNA samples of 66 BRCA1/2 negative high-risk breast cancer patients were retrospectively selected based on the presence of an extensive family history of the disease ( > 3 affecteds per family). All coding regions and splice-site boundaries of both genes were screened using High-Resolution Melting Analysis. Samples exhibiting variation were bi-directionally automated Sanger sequenced. The clinical significance of each variant was assessed using various in silico and splice site prediction algorithms. Comprehensive screening identified a total of 11 BLM and 26 PALB2 variants. The variants detected ranged from global to rare and included three novel mutations. Three BLM and two PALB2 likely pathogenic mutations were identified that could account for the disease in these extensive breast cancer families in the absence of BRCA mutations (BLM c.11T > A, p.V4D; BLM c.2603C > T, p.P868L; BLM c.3961G > A, p.V1321I; PALB2 c.421C > T, p.Gln141Ter; PALB2 c.508A > T, p.Arg170Ter). Conclusion: The study confirmed the contribution of pathogenic mutations in BLM and PALB2 to the familial breast cancer burden in South Africa. It explained the presence of the disease in 7.5% of the BRCA1/2 negative families with an extensive family history of breast cancer. Segregation analysis will be performed to confirm the clinical impact of these mutations for each of these families. These results justify the inclusion of both these genes in a comprehensive breast and ovarian next generation sequencing cancer panel and should be screened simultaneously with BRCA1 and BRCA2 as it might explain a significant percentage of familial breast and ovarian cancer in South Africa.

Keywords: Bloom Syndrome, familial breast cancer, PALB2, South Africa

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Authors: Khaled Sekkoum

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The traditional pharmacopoeia of Algerian Sahara is very rich on vegetable drugs. The great resources and biodiversity of Algerian Sahara flora seem responsible. A survey of medicinal plants used by the local population of the south west of Algeria for the urinary disorders is reported. Sixty-three plant species belonging to thirty-three families were identified. Their botanical and local names, plant part used, mode of use and ailment treated are given.

Keywords: medicinal plants, urinary diseases, Sahara, Algeria

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Authors: Rattanathip Rattanachai, Kunyanuth Kularbphettong

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This paper describes the development of a Vegetation Searching System based on Web Application in case of Suan Sunandha Rajabhat University. The model was developed by PHP, JavaScript, and MySQL database system and it was designed to support searching endemic and rare species of tree on web site. We describe the design methods and functional components of this prototype. To evaluate the system performance, questionnaires for system usability and Black Box Testing were used to measure expert and user satisfaction. The results were satisfactory as followed: Means for experts and users were 4.3 and 4.5, and standard deviation for experts and users were 0.61 and 0.73 respectively. Further analysis showed that the quality of plant searching web site was also at a good level as well.

Keywords: endemic species, vegetation, web-based system, black box testing, Thailand

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Authors: Nawal Al Musayeib, Musarat Amina, Perwez Alam

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Plectranthus barbatus Andrews (Lamiaceae) is the most common species of genus Plectranthus. It is used for treating various ailments. In this study, two rare diterpenes 11,14-dihydroxy-8,11,13-abietatrien-7-one (1) and 12-hydroxyabieta-8(14),9(11),12-trien-7-one (2) were isolated for the first time from P. barbatus. Their chemical structures were verified utilizing various spectroscopic experiments. The effect of diterpenes against undifferentiated/anaplastic thyroid cancer cell line (FRO) was evaluated and they were quantitatively analysed using HPTLC method. The two diterpenes were found to be cytotoxic, however compound 1 showed significant cytotoxic effects where 95% reduction in the cell viability was observed in different time intervals. The quantity of compound 1 and compound 2 in PBCE were found to be 2.04 and15.97 μg/mg, respectively of dried weight of the extract.

Keywords: abietatrien, cancer, diterpenes, Plectranthus barbatus

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Authors: Yousef Alwashahi, Ahmed Almoqbali, Mayar Albahrani, Asma Alajmi

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We report a rare case of a 49-year-old Omani woman who is a known case of primary anti-phospholipid syndrome, glucose-6-phosphate dehydrogenase deficiency, and iron deficiency anaemia. During cannulation, she was found to develop bulla that progressed to ulcerations. With chronicity and recurrent abscess formation that usually increase after surgical intervention, a pathergy phenomenon was postulated. High suspicion of pyoderma gangrenosum was considered. Fortunately, the rapid progression of the disease was slowed down with corticosteroids, cyclosporin, and biological agents.

Keywords: anti-phospholipid syndrome, pyoderma gangrenosum, bullous pyoderma gangrenosum, pathergy, pathergy phenomenon

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Authors: Syed Ahzam Tariq, Atharva Modi

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This paper presents a probabilistic analysis of the safety of water tube boilers using fault tree analysis (FTA). A fault tree has been constructed by considering all possible areas where a malfunction could lead to a boiler accident. Boiler accidents are relatively rare, causing a scarcity of data. The fuzzy approach is employed to perform a quantitative analysis, wherein theories of fuzzy logic are employed in conjunction with expert elicitation to calculate failure probabilities. The Fuzzy Fault Tree Analysis (FFTA) provides a scientific and contingent method to forecast and prevent accidents.

Keywords: fault tree analysis water tube boiler, fuzzy probability score, failure probability

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Authors: Lin Fu-Gong

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Background: As WHO announced, people with intellectual disability (ID) were vulnerable to mental health problems. And there were few custom-made mental health scales for those people to monitor their mental health. Those people with mental problems often accompanied worse prognosis and usually became to be a heavier burden on the caregivers. Purpose: In this study, we intend to develop a psychopathy scale as a practical tool for monitoring the mental health for people with ID living in institute. Methods: In this study, we adopt the Psychopathology Inventory for Mentally Retarded Adults developed by professor Matson with certified reliability and validity in Western countries with Dr. Matson’s agreement in advance. We first translated the inventory into Chinese validated version considering the domestic culture background in the past year. And the validity and reliability evaluation of mental health status using this inventory among the people with intellectual living in the institute were done. Results: The inventory includes eight psychiatric disorder scales as schizophrenic, affective, psychosexual, adjustment, anxiety, somatoform, personality disorders and inappropriate mental adjustment. Around 83% of 40 invested people, who randomly selected from the institute, were found to have at least one disorder who were recommended with medical help by two evaluators. Among the residents examined, somatoform disorder and inappropriate mental adjustment were most popular with 60% and 78% people respectively. Conclusion: The result showed the prevalence psychiatric disorders were relatively high among people with ID in institute and the mental problems need to be further cared and followed for their mental health. The results showed that the psychopathology inventory was a useful tool for institute caregiver, manager and for long-term care policy to the government. In the coming stage, we plan to extend the use of the valid Chinese version inventory among more different type institutes for people with ID to establish their dynamic mental health status including medical need, relapse and rehabilitation to promote their mental health.

Keywords: intellectual disability, psychiatric disorder, psychopathology inventory, mental health, the institute

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Authors: Mohd Aslam Aslam

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Chronic renal failure is a debilitating condition responsible for high morbidity and mortality. Because of its costs and the complexity of its treatment, proper care is available to very few patients in India. According to researchers, the number of adults aged 30 or older who have chronic kidney disease is projected to increase from 13.2 percent currently, to 14.4 percent in 2020 and 16.7 percent in 2030. The aerial part of Aerva lanata (Busehri booti) have been used in kidney disorders by the Unani physicians. In the present study, the effect of extract of Aerva lanata was investigated on cisplatin-induced nephrotoxicity in rats. The renal effects of this drug was evaluated by monitoring levels of blood urea nitrogen (BUN), serum creatinine, serum uric acid in blood and histopathological examination of kidney. Aerva lanata was evaluated at two different doses (1400 mg/kg and 2800 mg/kg). The effect of higher dose was more pronounced in terms of inhibition in the rise of BUN, serum creatinine and uric acid. Higher dose show greater prevention in the rise of BUN, serum creatinine, and uric acid. The histopathological examination of the kidney tissue of the rats treated with aqueous methanolic extract of Aerva lanata (Higher dose-2800 mg/kg) showed marked inhibition of glomerular congestion, tubular casts, peritubular congestion, epithelial desquamation, blood vessel congestion, interstitial edema and inflammatory cells produced by the cisplatin-induced nephrotoxicity. This finding clearly indicates the protective role of Aerva lanata at higher dose. Present investigation validates the use of Aerva lanata in kidney disorders by Unani physicians.

Keywords: Aerva lanata, Busehri booti, nephroprotective, unani medicine

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Authors: Zahra Bahadoran, Parvin Mirmiran, Hanieh-Sadat Ejtahed, Maryam Tohidi, Fereidoun Azizi

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Background and Aim: Broccoli sprouts, rich source of bioactive compounds specially sulforaphane (SFN), have unique functional properties. This study was conducted to investigate the possible treatment effects of high-SFN broccoli sprouts powder on metabolic and liver disorders in rats fed with high-fructose corn syrup. Methods: Thirty-two male wistar rats, pretreated with an eight-week high-fructose diet (water containing 30% fructose), were randomly allocated into three groups: Baseline control (BC), control (C) (normal diet), and BSP-diet (normal diet+5% BSP). The duration of the study was 6 weeks. Biochemical measurements, liver weight and triglyceride content were evaluated and histopathological examination of liver was performed. Results: After 6-weeks, the liver weight was significantly lower in BSP group compared to controls (13.4 g vs. 11.4 g, P<0.05). After 6 weeks, a significant decrease was observed in fasting serum glucose, total cholesterol and triglyceride levels in both experimental groups (P<0.05). Compared to controls, serum levels of HDL-C were significantly higher in BSP group. The liver TG content in BSP compared to control group was lower (14.6 vs. 16.4 mg/mg tissue). The hepatic levels of alanine aminotransferase, aspartate aminotransferase and γ-glutamyl transferase had not considerable changes in the groups after the intervention period but the level of alkaline phosphatase significantly decreased in BSP group (P<0.05). The histopathological examination of liver confirmed a decrease lobular and portal inflammation and ballooning in BSP group compared to control. Conclusion: High-SFN broccoli sprouts powder has beneficials effect on metabolic and liver changes-induced by high fructose corn syrup.

Keywords: broccoli sprouts, metabolic disorders, fatty liver, food science

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Authors: Merilin Ivanova Ivanova, Kalin Dimitrov Atanasov, Stefan Petrov Enchev

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Backgroud: Neuromyelitis optica spectrum disorder, also known as Devic’s disease, is a relapsing demyelinating autoimmune inflammatory disorder of the central nervous system associated with anti-aquaporin 4 (AQP4) antibodies that can manifest with devastating secondary neurological deficits. Most commonly affected are the optic nerves and the spinal cord-clinically this is often presented with optic neuritis (loss of vision), transverse myelitis(weakness or paralysis of extremities),lack of bladder and bowel control, numbness. APS is a core clinical entity of NMOSD and adds to the clinical representation the following symptoms: intractable nausea, vomiting and hiccup, it usually occurs isolated at onset, and can lead to a significant delay in the diagnosis. The condition may have features similar to multiple sclerosis (MS) but the episodes are worse in NMO and it is treated differently. It could be relapsing or monophasic. Possible complications are visual field defects and motor impairment, with potential blindness and irreversible motor deficits. In severe cases, myogenic respiratory failure ensues. The incidence of reported cases is approximately 0.3–4.4 per 100,000. Paediatric cases of NMOSD are rare but have been reported occasionally, comprising less than 5% of the reported cases. Objective: The case serves to show the difficulty when it comes to the diagnostic processes regarding a rare autoimmune disease with non- specific symptoms, taking large interval of rimes to reveal as complete clinical manifestation of the aforementioned syndrome, as well as the necessity of multidisciplinary approach in the setting of а general paediatric department in аn emergency hospital. Methods: itpatient's history, clinical presentation, and information from the used diagnostic tools(MRI with contrast of the central nervous system) lead us to the conclusion .This was later on confirmed by the positive results from the anti-aquaporin 4 (AQP4) antibody serology test. Conclusion: APS is a common symptom of NMOSD and is considered a challenge in a differential-diagnostic plan. Gaining an increased awareness of this disease/syndrome, obtaining a detailed patient history, and performing thorough physical examinations are essential if we are to reduce and avoid misdiagnosis.

Keywords: neuromyelitis, devic's disease, hiccup, autoimmune, MRI

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Authors: Igor V. Savchenko, Dmitrii A. Samoshkin

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The active study of the properties of lanthanides has begun in the late 50s of the last century, when methods for their purification were developed and metals with a relatively low content of impurities were obtained. Nevertheless, up to date, many properties of the rare earth metals (REM) have not been experimentally investigated, or insufficiently studied. Currently, the thermal conductivity and thermal diffusivity of lanthanides have been studied most thoroughly in the low-temperature region and at moderate temperatures (near 293 K). In the high-temperature region, corresponding to the solid phase, data on the thermophysical characteristics of the REM are fragmentary and in some cases contradictory. Analysis of the literature showed that the data on the thermal conductivity and thermal diffusivity of light REM in the liquid state are few in number, little informative (only one point corresponds to the liquid state region), contradictory (the nature of the thermal conductivity change with temperature is not reproduced), as well as the results of measurements diverge significantly beyond the limits of the total errors. Thereby our experimental results allow to fill this gap and to clarify the existing information on the heat transfer coefficients of neodymium and samarium in a wide temperature range from the melting point up to 1770 K. The measurement of the thermal conductivity of investigated metallic melts was carried out by laser flash technique on an automated experimental setup LFA-427. Neodymium sample of brand NM-1 (99.21 wt % purity) and samarium sample of brand SmM-1 (99.94 wt % purity) were cut from metal ingots and then ones were annealed in a vacuum (1 mPa) at a temperature of 1400 K for 3 hours. Measuring cells of a special design from tantalum were used for experiments. Sealing of the cell with a sample inside it was carried out by argon-arc welding in the protective atmosphere of the glovebox. The glovebox was filled with argon with purity of 99.998 vol. %; argon was additionally cleaned up by continuous running through sponge titanium heated to 900–1000 K. The general systematic error in determining the thermal conductivity of investigated metallic melts was 2–5%. The approximation dependences and the reference tables of the thermal conductivity and thermal diffusivity coefficients were developed. New reliable experimental data on the transport properties of the REM and their changes in phase transitions can serve as a scientific basis for optimizing the industrial processes of production and use of these materials, as well as ones are of interest for the theory of thermophysical properties of substances, physics of metals, liquids and phase transformations.

Keywords: high temperatures, laser flash technique, liquid state, metallic melt, rare earth metals, thermal conductivity, thermal diffusivity

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Authors: N. Bendimerad, M. Lemerini, A. Guen

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In this work, we propose to determine the density of neutral particles of an electric discharge peak - Plan types performed in air at atmospheric pressure by applying a technique based on laser interferometry. The experimental methods used so far as the shadowgraph or stereoscopy, give rather qualitative results with regard to the determination of the neutral density. The neutral rotational temperature has been subject of several studies but direct measurements of kinetic temperature are rare. The aim of our work is to determine quantitatively and experimentally depopulation with a Mach-Zehnder type interferometer. This purely optical appearance of the discharge is important when looking to know the refractive index of any gas for any physicochemical applications.

Keywords: laser source, Mach-Zehnder interferometer, refractive index, corona discharge

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Authors: S. AlBustan, B. AlGhannam

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This oral presentation discusses a proposal for a study that evaluates the usability of an evidence based application named ProxTalker App. The significance of this study will inform administration and faculty staff at the Department of Communication Sciences Disorders (CDS), College of Life Sciences, Kuwait University whether the app is a suitable tool to use for CDS students. A case study will be used involving a sample of CDS students taking practicum and internship courses during the academic year 2018/2019. The study will follow a process used by previous study. The process of calculating SUS is well documented and will be followed. ProxTalker App is an alternative and augmentative tool that speech language pathologist (SLP) can use to customize boards for their clients. SLPs can customize different boards using this app for various activities. A board can be created by the SLP to improve and support receptive and expressive language. Using technology to support therapy can aid SLPs to integrate this ProxTalker App as part of their clients therapy. Supported tools, games and motivation are some advantages of incorporating apps during therapy sessions. A quantitative methodology will be used. It involves the utilization of a standard tool that was the was adapted to the Arabic language to accommodate native Arabic language users. The tool that will be utilized in this research is the Arabic Standard Usability Scale (A-SUS) questionnaire which is an adoption of System Usability Scale (SUS). Standard usability questionnaires are reliable, valid and their process is properly documented. This study builds upon the development of A-SUS, which is a psychometrically evaluated questionnaire that targets Arabic native speakers. Results of the usability will give preliminary indication of whether the ProxTalker App under investigation is appropriate to be integrated within the practicum and internship curriculum of CDS. The results of this study will inform the CDS department of this specific app is an appropriate tool to be used for our specific students within our environment because usability depends on the product, environment, and users.

Keywords: A-SUS, communication disorders practicum, evidence based app, Standard Usability Scale

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Authors: Zehra Buyuktuncer, Aylin H. Büyükkaragöz, Tuğçe N. Balcı, Nevin Ergun

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Background: Undergoing rigid dietary habits for enhancing athletic performance could lead to eating disorders. High prevalence of eating disorders among female athletes has been already reported. However, the risk of disordered eating among disabled athletes is not known. A better knowledge of the different eating behaviors and their prevalence in disabled athletes would be helpful to understand interactions between eating and health. This study aimed to examine the cognitive restraint, uncontrolled eating and emotional eating behaviors in a disabled athlete population. Method: A total of 70 disabled Turkish national athletes (33 female, 37 male) from 5 sport branches (soccer, weight lifting, shooting, table tennis and basketball) were involved in the study. The cognitive restraint, uncontrolled eating and emotional eating behaviors were assessed using the revised version of Three Factor Eating Questionnaire-R18 (TFEQ-R18). The questionnaires were conducted by dietitian during the preparation camps of athletes. Body weight, height and waist circumference (WC) were measured; and body composition was analyzed by bioelectrical impedance analysis method. Results: The TFEQ scales showed a cognitive dietary restraint score of 13.9±4.2, uncontrolled eating score of 17.7±5.8 and emotional eating score of 4.9±2.5. The mean score of total TFEQ-R18 was 36.5±8.62. Neither total TFEQ-R18 score nor subscale scores differed significantly by gender or sport branches (p>0.05, for each). The scores were also similar in BMI groups (n=63; p>0.05). Total TFEQ, uncontrolled eating and emotional eating scores were significantly higher among the athletes with congenital disabilities compared to the scores of the athletes with acquired disabilities (p<0.05, for each). Moreover, the cognitive dietary restraint score was significantly high in athletes who would like to lose weight (p=0.009). Conclusion: Disabled athletes might have a risk of disordered eating. The different eating behaviors among disabled athletes should be assessed using validated tools to develop personalized nutritional strategies for those athletes.

Keywords: disabled athletes, eating behaviour, three-factor eating questionnaire-r18, body composition

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Authors: Stephanie Newman

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Niemann-Pick Type C disease is a rare, usually fatal lysosomal storage disorder. Although clinically characterized by progressive neurodegeneration, there is also evidence of altered innate immune responses such as neuroinflammation that promote disease progression. We have initiated an investigation into whether phagocytosis, an important innate immune activity and the process by which particles are ingested is defective in NPC. Using an in vitro assay, we have shown that NPC macrophages have a deficiency in the phagocytosis of different particles. We plan to investigate the mechanistic basis for impaired phagocytosis, the contribution that this deficiency makes to disease pathology, and whether therapies that have shown in vivo benefit are able to restore phagocytic activity.

Keywords: Niemann Pick Disease C, phagocytosis, innate immunity, lysosomal storage disorder

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