Search results for: frailty syndrome
Commenced in January 2007
Frequency: Monthly
Edition: International
Paper Count: 776

Search results for: frailty syndrome

566 The Effect of Surgical Intervention on Pediatric and Adolescent Obstructive Sleep Apnea Syndrome

Authors: Ching-Yi Yiu, Hui-Chen Hsu

Abstract:

Objectives: Obstructive sleep apnea syndrome (OSAS) is a popular problem in the modern society. It usually leads to sleep disorder, excessive daytime sleepiness and associated with cardiovascular diseases, cognitive dysfunction and even death. The nonsurgical therapies include continuous positive airway pressure (CPAP), diet and oral appliances. The surgical approaches have nasal surgery, tonsillectomy, adenoidectomy, uvulopalatopharyngoplasty (UPPP) and transoral robotic surgery (TORS).We compare the impact of surgical treatments on these kinds of patients. Methods: Between January 2018 to September 2022, We have enrolled 125 OSAS patients including 82 male and 43 female in Chi Mei Medical Center, Liouying, Taiwan. The age distribution from 6 to 71 years old (y/o) with mean age 36.1 y/o. The averaged body mass index (BMI) is 25 kg/m2 in male and 25.5 kg/m2 in female. In this cohort, we evaluated their upper airway obstruction sites with nasopharyngoscopy and scheduled a planned surgery. Some of cases received polysomnography (PSG) preoperatively, the averaged apnea-hypopnea index (AHI) is 37.7 events/hour. We have 68 patients received tonsillectomy, 9 received UPPP, 42 received UPPP and septomeatoplasty (SMP) and 6 received adenoidectomy and tonsillectomy (A and T). The subjective daytime sleepiness was evaluated with the Epworth sleepiness scale (ESS). Results: In the 68 tonsillectomy group, the averaged BMI is 24.9 kg/m2. In the UPPP group, the averaged BMI is 28.9 kg/m2. In UPPP and SMP group, the averaged BMI is 27.9 kg/m2. In the A and T group, the averaged BMI is 17.2 kg/m2. The reduction of AHI less than 20 is 58% postoperatively. The ESS reduced from 10.9 to 4.9 after surgery. Conclusion: Obstructive sleep apnea syndrome is a common upper airway disturbance in the general population. The prevalence rate is ranging high depending on different regions, age, sex and race. It leads to severe morbidity and mortality including car accident, stroke, nocturnal desaand sudden death and should be considered to be a major public health problem. The CPAP is effective to improve daytime sleepiness but the long-term compliance is low. The surgical treatment with different modalities can produce 50% decrease in AHI and ESS after surgery in the 6 to 12 months short-term period.

Keywords: apnea-hypopnea index, obstructive sleep apnea syndrome, polysomnography, uvulopalatopharyngoplasty

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565 Obesity, Metabolic Syndrome and Related Risk Behaviors Among Thai Medical Students of Thammasat University

Authors: Patcharapa Thaweekul, Paskorn Sritipsukho

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Background: During the training period of the 6-year medical curriculum, medical students seem to have many risk behaviors of developing obesity. This study aims to demonstrate the prevalence and risk behavior of obesity and related metabolic disorders among the final-year medical students of Thammasat University as well as the change in nutritional status during studying program. Methods: 123 participants were asked to complete the self-report questionnaires. Weight, height, waist circumference and blood pressure were obtained. Blood samples were drawn for total cholesterol, high-density lipoprotein, low-density lipoprotein, triglycerides and plasma glucose. Body weight and height of the medical students in the first year were obtained from the medical report at the entry. Results: The prevalence of overweight and obesity at the entry to medical school was 22.0% and increased to 30.1% in the final year. Two obese students (5.4%) was diagnosed as metabolic syndrome. During 6-year curriculum, the BMI gained in male medical students were more significant as compared to female students (1.76±1.74 and 0.43±1.82 kg/m2, respectively; p <.001). The current BMI is significantly correlated with the BMI at entry. Serum LDL-C in the overweight/obese students was significantly higher as compared to the normal weight and underweight group. Sleep deprivation was a significantly frequent behavior in the overweight/obese students. Conclusion: Medical students, as having high-risk behaviors, should be assessed for the nutritional status and metabolic parameters. Medical schools should promote the healthy behaviors to increase the healthy eating and exercise habits and reduced the risk behaviors among them.

Keywords: medical students, metabolic syndrome, obesity, risk behaviors

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564 Differential Expression of GABA and Its Signaling Components in Ulcerative Colitis and Irritable Bowel Syndrome Pathogenesis

Authors: Surbhi Aggarwal, Jaishree Paul

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Background: Role of GABA has been implicated in autoimmune diseases like multiple sclerosis, type1 diabetes and rheumatoid arthritis where they modulate the immune response but role in gut inflammation has not been defined. Ulcerative colitis (UC) and diarrhoeal predominant irritable bowel syndrome (IBS-D) both involve inflammation of gastrointestinal tract. UC is a chronic, relapsing and idiopathic inflammation of gut. IBS is a common functional gastrointestinal disorder characterised by abdominal pain, discomfort and alternating bowel habits. Mild inflammation is known to occur in IBS-D. Aim: Aim of this study was to investigate the role of GABA in UC as well as in IBS-D. Materials and methods: Blood and biopsy samples from UC, IBS-D and controls were collected. ELISA was used for measuring level of GABA in serum of UC, IBS-D and controls. RT-PCR analysis was done to determine GABAergic signal system in colon biopsy of UC, IBS-D and controls. RT-PCR was done to check the expression of proinflammatory cytokines. CurveExpert 1.4, Graphpad prism-6 software were used for data analysis. Statistical analysis was done by unpaired, two-way student`s t-test. All sets of data were represented as mean± SEM. A probability level of p < 0.05 was considered statistically significant. Results and conclusion: Significantly decreased level of GABA and altered GABAergic signal system was detected in UC and IBS-D as compared to controls. Significantly increased expression of proinflammatory cytokines was also determined in UC and IBS-D as compared to controls. Hence we conclude that insufficient level of GABA in UC and IBS-D leads to overproduction of proinflammatory cytokines which further contributes to inflammation. GABA may be used as a promising therapeutic target for treatment of gut inflammation or other inflammatory diseases.

Keywords: diarrheal predominant irritable bowel syndrome, γ-aminobutyric acid (GABA), inflammation, ulcerative colitis

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563 Circadian Disruption in Polycystic Ovary Syndrome Model Rats

Authors: Fangfang Wang, Fan Qu

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Polycystic ovary syndrome (PCOS), the most common endocrinopathy among women of reproductive age, is characterized by ovarian dysfunction, hyperandrogenism and reduced fecundity. The aim of this study is to investigate whether the circadian disruption is involved in pathogenesis of PCOS in androgen-induced animal model. We established a rat model of PCOS using single subcutaneous injection with testosterone propionate on the ninth day after birth, and confirmed their PCOS-like phenotypes with vaginal smears, ovarian hematoxylin and eosin (HE) staining and serum androgen measurement. The control group rats received the vehicle only. Gene expression was detected by real-time quantitative PCR. (1) Compared with control group, PCOS model rats of 10-week group showed persistently keratinized vaginal cells, while all the control rats showed at least two consecutive estrous cycles. (2) Ovarian HE staining and histological examination showed that PCOS model rats of 10-week group presented many cystic follicles with decreased numbers of granulosa cells and corpora lutea in their ovaries, while the control rats had follicles with normal layers of granulosa cells at various stages of development and several generations of corpora lutea. (3) In the 10-week group, serum free androgen index was notably higher in PCOS model rats than controls. (4) Disturbed mRNA expression patterns of core clock genes were found in ovaries of PCOS model rats of 10-week group. Abnormal expression of key genes associated with circadian rhythm in ovary may be one of the mechanisms for ovarian dysfunction in PCOS model rats induced by androgen.

Keywords: polycystic ovary syndrome, androgen, animal model, circadian disruption

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562 Serum 25-Dihydroxy Vitamin D3 Level Estimation and Insulin Resistance in Women of 18-40 Years Age Group with Polycystic Ovarian Syndrome

Authors: Thakur Pushpawati, Singh Vinita, Agrawal Sarita, Mohapatra Eli

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Polycystic ovary syndrome (PCOS) is a disease of endocrine and frequently encountered in women in their reproductive period, and it is characterized by clinical features of anovulation, clinical and biochemical features of hyperandrogenism, and PCOS morphology on ultrasonographic examination. In Indian scenario, only a few studies are available on the correlation of serum 25-dihydroxy vitamin D3 level and insulin level. The present study is a prospective case-control study and aims to estimate the concentration of serum 25-dihydroxy vitamin D3 and insulin resistance and determine the association of serum 25-dihydroxy vitamin D3 with insulin resistance in PCOS women of 18-40 years age group. In this study, the primary objective is to estimate the concentration of 25-dihydroxy vitamin D3, insulin, glycaemic status, calcium and phosphorus levels in 18-40 year age women with polycystic ovary syndrome and to compare these parameters with age and BMI matched healthy control of same age group women. The secondary objective is to determine the association between 25-dihydroxy vitamin D3 concentration and insulin resistance among PCOS cases in 18-40 years age group women. This study was carried on at outpatient Department of Obstetrics & Gynaecology, Aiims Raipur. It took one year from the date of approval. In case, 32 women were diagnosed (Diagnosed PCOS cases as per Rotterdoms criteria among women of 18-40 years of age), as control group 32 women of 18-40 years of age were diagnosed As a result, serum insulin level was elevated among PCOS women along with 25-dihydroxy vitamin D3 deficiency.Conclude up, PCOS is more common in the age group of 20-40 years. There is a strong correlation between vitamin D deficiency and insulin resistance among PCOS patients.

Keywords: vitamin D, insulin resistance, PCOS, reproductive age group

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561 Visualising Charles Bonnet Syndrome: Digital Co-Creation of Pseudohallucinations

Authors: Victoria H. Hamilton

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Charles Bonnet Syndrome (CBS) is when a person experiences pseudohallucinations that fill in visual information from any type of sight loss. CBS arises from an epiphenomenal process, with the physical actions of sight resulting in the mental formations of images. These pseudohallucinations—referred to as visions by the CBS community—manifest in a wide range of forms, from complex scenes to simple geometric shapes. To share these unique visual experiences, a remote co-creation website was created where CBS participants communicated their lived experiences. This created a reflexive process, and we worked to produce true representations of these interesting and little-known phenomena. Digital reconstruction of the visions is utilised as it echoes the vivid, experiential movie-like nature of what is being perceived. This paper critically analyses co-creation as a method for making digital assets. The implications of the participants' vision impairments and the application of ethical safeguards are examined in this context. Important to note, this research is of a medical syndrome for a non-medical, practice-based design. CBS research to date is primarily conducted by the ophthalmic, neurological, and psychiatric fields and approached with the primary concerns of these specialties. This research contributes a distinct approach incorporating practice-based digital design, autoethnography, and phenomenology. Autoethnography and phenomenology combine as a foundation, with the first bringing understanding and insights, balanced by the second philosophical, bigger picture, and established approach. With further refining, it is anticipated that the research may be applied to other conditions. Conditions where articulating internal experiences proves challenging and the use of digital methods could aid communication. Both the research and CBS communities will benefit from the insights regarding the relationship between cognitive perceptions and the vision process. This research combines the digital visualising of visions with interest in the link between metaphor, embodied cognition, and image. The argument for a link between CBS visions and metaphor may appear evident due to the cross-category mapping of images that is necessary for comprehension. They both are— CBS visions and metaphors—the experience of picturing images, often with lateral connections and imaginative associations.

Keywords: Charles Bonnet Syndrome, digital design, visual hallucinations, visual perception

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560 The Management of Behcet's Disease Patient's Mandibular Total Edentulism with Custom Made Implant Supported Bar Retainer: A Case Report

Authors: Faruk Emir, Simel Ayyıldız, Cem Şahin

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Behçet’s disease or Behçet’s syndrome is a chronic and multi-systemic inflammatory disease of unknown cause. This syndrome often presents with mucous membrane ulceration and ocular problems. As a systemic disease Behcet includes triple-symptom complex of recurrent oral aphthous ulcers, genital ulcers, and uveitis. Nearly all patients present with some form of painful oral mucocutaneous ulcerations in the form of aphthous ulcers. The aim of the treatment plan for Behçet’s Disease patients is to eliminate oral problems and increase the patient comfort.This clinical report represents the prosthodontic rehabilitation of Behcet’s disease patients mandibular total edentulism with the use of implant supported prosthesis that planned on custom abutments and bar retainers via CAD/CAM technology and patient satisfaction has been achieved in function and aesthetics.

Keywords: Behçet’s disease, CAD/CAM, custom-made manufacturing, titanium milled bar retainer

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559 Assessment of Health Literacy and Awareness of Female Residents of Barangay Dagatan, Sabang, and Marauoy Lipa, Batangas on Polycystic Ovarian Syndrome: A Cross-Sectional Study

Authors: Jean Gray C. Achapero, Mary Margareth P. Ancheta, Patricia Anjelika A. Angeles, Shannon Denzel S. Ao Tai, Carl Brandon C. Barlis, Chrislen Mae B. Benavidez

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Health literacy and awareness of Polycystic ovarian syndrome (PCOS) is a global issue that is under-addressed in the Philippines. Conducting a thorough review of the country's ability to recognize and comprehend the severity of the syndrome should be undertaken, as early treatment is essential to avoid further disorder complications. This research aims to assess the health literacy and awareness of the female residents of Barangay Dagatan, Sabang, and Marauoy Lipa, Batangas on PCOS. It followed a cross-sectional study, and data gathering was done through a pre-assessment using the Single Item Literacy Screener (SILS) and an online population-based survey questionnaire about PCOS awareness. The participants, as based on the objectives and purposive sampling method, were females aged 18-45 years old. Data were analyzed statistically using STATA 13.1 software. The study showed that 339 (76%) out of 444 respondents passed the SILS meaning the residents have proficient health literacy. Among the 339 respondents, 87% (287) had previous knowledge about PCOS. The respondents showed minimal awareness of PCOS symptoms which could be attributed to its broad spectrum of information. Respondents were shown to be most knowledgeable about PCOS physiology, treatment, beliefs, and its remedies. The respondents’ age had no significant association with their health literacy (p=0.31) and PCOS awareness (p=0.60). A significant association was noted, however, in their educational attainment linked with their health literacy (p=<0.0001) and PCOS awareness (p=0.001). It is suggested that reproductive health education even in the lower year levels must be optimized and Local Government Unit (LGU)/Non-Government Organization (NGO)-held seminars should be conducted for knowledge reinforcement. Reliable health information should be more accessible to the public and clinicians must emphasize the importance of the majority of early screening as part of routine physical examination for women of reproductive age to increase health literacy and awareness about PCOS and actively engage in the management of the disease.

Keywords: age, awareness, educational attainment, health literacy, polycystic ovarian syndrome

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558 Design of Built-Spaces and Enhanced Psychological Wellbeing by Limiting Effect of SBS: An Analytical Study across Students in Indian Universities

Authors: Sadaf H. Khan, Jyoti Kumar

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Sick Building Syndrome (SBS) is a situation in which inhabitants of a building develop illness symptoms or get infected with a chronic disease as a result of the building in which they reside or work. Certain symptoms tend to get more severe as an individual spends more time in the building; however, they generally improve with time or even disappear when they leave that space. Though ‘Design of Built-Spaces’ is a crucial factor in regulating these symptoms but it still needs to be identified further as to what specific design features of a ‘Built-Space’ trigger sick building syndrome (SBS). Much of the research work present to date is focused on the physiological or physical sickness caused due to inappropriate built-space design. In this paper, the psychological aspects of sick building syndrome (SBS) will be investigated across the adult population, more specifically graduate students in India trying to settle in back to their previous physical work environments, i.e., campus, classrooms, hostels, after a very long hold which lasted more than a year due to lockdowns during Covid-19 crisis all over the world. The study will follow an analytical approach and the data will be collected through self-reported online surveys. The purpose of this study is to enquire causal agents, diagnosable symptoms and remedial design of built spaces which can enhance the productive level of built environments and better facilitate the inhabitants by improving their psychological wellbeing, which is the most uprising concern. The fact that SBS symptoms can be studied only within the initial few weeks as an occupant starts interacting with a built-environment and leaves as the occupant leaves that space or zone, the post-lockdown incoming of students back to their respective campuses provides an opportunity to clearly draw multiple conclusions of the relationship that exist between the Design of Built-Spaces and Psychological Sickness Syndrome associated with it. The study will be one of a kind approach for understanding and formulating methods to improve psychological wellbeing within a built-setting by better identifying factors associated with these psychological symptoms, including anxiety, mental fatigue, reduced attention span and reduced memory span as refined symptoms of SBS discussed in 1987 by Molhave within his study.

Keywords: built-environment psychology, built-space design, healthcare architecture, psychological wellbeing

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557 Parsonage Turner Syndrome PTS, Case Report

Authors: A. M. Bumbea, A. Musetescu, P. Ciurea, A. Bighea

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Objectives: The authors present a Parsonage Turner syndrome, a rare disease characterized by onset in apparently healthy person with shoulder and/or arm pain, sensory deficit, motor deficit. The causes are not established, could be determinate by vaccination, postoperative, immunologic disease, post traumatic etc. Methods: The authors present a woman case, 32 years old, (in 2006), no medical history, with arm pain and no other symptom. The onset was sudden with pain at very high level quantified as 10 to a 0 to 10 scale, with no response to classical analgesic and corticoids. The only drugs which can reduce the intensity of pain were oxycodone hydrochloride, 60 mg daily and pregabalinum150 mg daily. After two weeks the intensity of pain was reduced to 5. The patient started a rehabilitation program. After 6 weeks the patient associated sensory and motor deficit. We performed electromyography for upper limb that showed incomplete denervation with reduced neural transmission speed. The patient receives neurotrophic drugs and painkillers for a long period and physical and kinetic therapy. After 6 months the pain was reduced to level 2 and the patient maintained only 150 mg pregabalinum for another 6 months. Then, the evaluation showed no pain but general amiotrophy in upper limb. Results: At the evaluation in 2009, the patient developed a rheumatoid syndrome with tender and swelling joints, but no positive inflammation test, no antibodies or rheumatoid factor. After two years, in 2011 the patient develops an increase of antinuclear antibodies. This context certifies the diagnosis of lupus and the patient receives the specific therapy. Conclusions: This case is not a typical case of onset of lupus with PTS, but the onset of PTS could include the onset of an immune disease.

Keywords: lupus, arm pain, patient, swelling

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556 Analyzing Large Scale Recurrent Event Data with a Divide-And-Conquer Approach

Authors: Jerry Q. Cheng

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Currently, in analyzing large-scale recurrent event data, there are many challenges such as memory limitations, unscalable computing time, etc. In this research, a divide-and-conquer method is proposed using parametric frailty models. Specifically, the data is randomly divided into many subsets, and the maximum likelihood estimator from each individual data set is obtained. Then a weighted method is proposed to combine these individual estimators as the final estimator. It is shown that this divide-and-conquer estimator is asymptotically equivalent to the estimator based on the full data. Simulation studies are conducted to demonstrate the performance of this proposed method. This approach is applied to a large real dataset of repeated heart failure hospitalizations.

Keywords: big data analytics, divide-and-conquer, recurrent event data, statistical computing

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555 Effect of SCN5A Gene Mutation in Endocardial Cell

Authors: Helan Satish, M. Ramasubba Reddy

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The simulation of an endocardial cell for gene mutation in the cardiac sodium ion channel NaV1.5, encoded by SCN5A gene, is discussed. The characterization of Brugada Syndrome by loss of function effect on SCN5A mutation due to L812Q mutant present in the DII-S4 transmembrane region of the NaV1.5 channel protein and its effect in an endocardial cell is studied. Ten Tusscher model of human ventricular action potential is modified to incorporate the changes contributed by L812Q mutant in the endocardial cells. Results show that BrS-associated SCN5A mutation causes reduction in the inward sodium current by modifications in the channel gating dynamics such as delayed activation, enhanced inactivation, and slowed recovery from inactivation in the endocardial cell. A decrease in the inward sodium current was also observed, which affects depolarization phase (Phase 0) that leads to reduction in the spike amplitude of the cardiac action potential.

Keywords: SCN5A gene mutation, sodium channel, Brugada syndrome, cardiac arrhythmia, action potential

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554 The Relationships between AntimüLlerian Hormone, Androgens and Ovarian Reserve in Non-Obese East Indian Women with and without Polycystic Ovary Syndrome

Authors: Dipanshu Sur, Ratnabali Chakravorty, Rimi Pal, Siddhartha Chatterjee, Joyshree Chaterjee, Amal Mallik

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Background: Polycystic ovary syndrome (PCOS) is a common endocrine disease in reproductive women with a complex hormonal disturbance that affects the menstrual cycle and leads to metabolic consequences in later life. Hyperandrogenaemia is noticeable features of PCOS and influence the process of folliculogenesis in women. The levels of Antimüllerian Hormone (AMH) reflect the number of pre-antral follicles and thus are a marker of oocyte pool – germinal reserve of the ovary for reproduction. Besides its utilization in IVF (In-vitro fertilization), determination of AMH may serve as an additional marker in the diagnostics of PCOS, where increased AMH levels reflect the severity of the disease. The positive correlation of serum AMH with the number of antral follicles was found also in patients with PCOS. Objective: The objective of this study was to investigate the relationship between AMH androgens and whether AMH contributes to altered folliculogenesis in non-obese women with PCOS. Methods: We designed a prospective study which included a total of 65 IVF individuals. It enrolled 26 cases of PCOS based on 2003 Rotterdam criteria and 39 ovulatory normal- non PCOS, healthy, age-matched controls. AMH levels and ovarian morphology were assessed. The relationships between AMH and androgenaemia in patients with and without PCOS were studied. Results: Mean age of PCOS patients were slightly higher than controls (32±4 and 28±3 years, respectively). AMH generally increased with antral follicle count (AFC) [P=0.001], testosterone, and luteinising hormone, and decreased with age, and serum sex hormone binding globulin (SHBG). No significant relationships were found between circulating AMH levels and BMI between PCOS and non-PCOS patients. The calculation of AMH production per antral follicle (AMH/AF) showed that there was a significant difference in median AMH/AF between PCOS and non-PCOS (P =0.001). Both PCOS and non-PCOS groups showed a very similar increase in AMH with increases in AFC, but the PCOS patients had consistently higher AMH across all AFC levels. Conclusions: These observations indicate that there is a connection between AMH and androgens levels between PCOS and non-PCOS East Indian women. Excessive granulosa cell activity may be implicated in the abnormal follicular dynamic of the syndrome. They are higher in women with PCOS and, on the other hand, very low in women with an ovarian failure.

Keywords: anti-Mullerian hormone, polycystic ovary syndrome, antral follicle count, androgens

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553 Risk of Androgen Deprivation Therapy-Induced Metabolic Syndrome-Related Complications for Prostate Cancer in Taiwan

Authors: Olivia Rachel Hwang, Yu-Hsuan Joni Shao

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Androgen Deprivation Therapy (ADT) has been a primary treatment for patients with advanced prostate cancer. However, it is associated with numerous adverse effects related to Metabolic Syndrome (MetS), including hypertension, diabetes, hyperlipidaemia, heart diseases and ischemic strokes. However, complications associated with ADT for prostate cancer in Taiwan is not well documented. The purpose of this study is to utilize the data from NHIRD (National Health Insurance Research Database) to examine the trajectory changes of MetS-related complications in men receiving ADT. The risks of developing complications after the treatment were analyzed with multivariate Cox regression model. Covariates including in the model were the complications before the diagnosis of prostate cancer, the age, and the year at cancer diagnosis. A total number of 17268 patients from 1997-2013 were included in this study. The exclusion criteria were patients with any other types of cancer or with the existing MetS-related complications. Changes in MetS-related complications were observed among two treatment groups: 1) ADT (n=9042), and 2) non-ADT (n=8226). The ADT group appeared to have an increased risk in hypertension (hazard ratio 1.08, 95% confidence interval 1.03-1.13, P = 0.001) and hyperlipidemia (hazard ratio 1.09, 95% confidence interval 1.01-1.17, P = 0.02) when compared with non-ADT group in the multivariate Cox regression analyses. In the risk of diabetes, heart diseases, and ischemic strokes, ADT group appeared to have an increased but not significant hazard ratio. In conclusion, ADT was associated with an increased risk in hypertension and hyperlipidemia in prostate cancer patients in Taiwan. The risk of hypertension and hyperlipidemia should be considered while deciding on ADT, especially those with the known history of hypertension and hyperlipidemia.

Keywords: androgen deprivation therapy, ADT, complications, metabolic syndrome, MetS, prostate cancer

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552 Multiple Strategies in Prevention of Metabolic Syndrome Result from Vitamin D Deficiency in Children

Authors: Maryam Ghavam Sadri, Maryam Shahrooz

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Background: Nowadays the prevalence of metabolic syndrome (Mets) has taken on a growing trend. Studies have shown the relationship between vitamin D deficiency (VDD) status and Mets in children. Also studies have recorded that exerting strategies for vitamin D status improvement can help prevent Mets in children. This study investigated multiple strategies of prevention of Mets resulting from VDD in children. Methods: This review study has been done by using keywords related to the topic and 54 articles were found (2000-2015) that 25 were selected according to the indicators of Mets, supplementation and fortification of foods with vitamin D and attention to children environment and life style. Results: Studies have suggested the correlation between serum levels of vitamin D with waist circumference (p < 0.0001), systolic blood pressure (p=0.01), HOMA-IR (p=0.001) and HDL cholesterol (p < 0.0001). An inverse correlation between serum 25 (OH) D and HOMA-IR (p = 0.006) and insulin (P = 0.002) has been proved in overweight group. Higher HOMASDS and triglycerides found in vitamin D deficient obese children compared to control group without VDD (p=0.04). After supplementation with vitamin D, serum TG concentration decreases significantly (p=0.04), and improves insulin resistance (p=0.02). The prevalence of VDD is associated with time of watching TV (P < 0.01), hours of physical activity per week (P = 0.01), skipping breakfast (P < 0.001) soda intake (P < 0.001), and milk intake per day (P < 0.01). Conclusion: According to the beneficial role of vitamin D in prevention of Mets and proven relationship between serum levels of vitamin D and Mets indicators, we can prevent childhood Mets through the application of appropriate strategies such as supplementation and food fortification with vitamin D and positive changes in children life style with especial attention to physical activity in exposure of sunlight and their environment condition.

Keywords: children, metabolic syndrome, prevention strategies, vitamin D

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551 Comparative Therapeutic Effect of Acalypha indica Linn. Extract and Gemfibrozil on High Fructose and Cholesterol Diet Induced Pancreas Steatosis in Sprague-Dawley Mice

Authors: Adrian Reynaldo Sudirman, Siti Farida, Aisyah Aminy Maulidina, Caren Andika Surbakti

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Sedentary lifestyle and imbalance consumption pattern has made metabolic syndrome as the global time bomb phenomenon in the world. The increasing tendency of people in consuming high amount of fructose and cholesterol food has worsened this issue in the society. Pancreas steatosis become one of the most comorbid when early diagnosis and prompt treatment has not been applied on hyperglycemic and hyperlipidemic condition in metabolic syndrome patient. Gemfibrozil become the drug of choice to prevent this issue, yet the efficacy of this regiment was still questionable. Acalypha indica Linn. is the herb that has protective effect on hyperlipidemic and hyperglycemic condition. This study was aimed to compare therapeutic effect of gemfibrozil (G) and Acalypha indica Linn. (AI) on high fructose and cholesterol diet-induced pancreas steatosis in Sprague-Dawley mice. The post induction mice were divided into four groups: control, gemfibrozil, AI extract, and G+AI combination regiment. Each group received four weeks intervention. The result of statistical analysis using the One-Way ANOVA test and Tukey Post Hoc test showed significant decrease in pancreatic steatosis between the control group and administered Acalypha indica group (p = 0.004, 95% CI: 0.170-0.959) and the group administered with a combination of Gemfibrozil-Acalypha indica (p = 0.023, 95% CI: 0.537-0.813). The protective effect of Acalypha indica Linn. shows that this plant has the potential as therapeutic option in overcoming the condition of pancreas steatosis in metabolic syndrome.

Keywords: Acalypha Indica Linn., Cholesterol, Fructose, Gemfibrozil, Pancreas Steatosis

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550 The Effects of Androgen Receptor Mutation on Cryptorchid Testes in 46, XY Female

Authors: Ihtisham Bukhari

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In the current study, we enrolled a 46, XY phenotypically female patient bearing testes in her inguinal canal. DNA sequencing of the AR gene detected a missense mutation C.1715A > G (p. Y572C) in exon 2 which is already known to cause Complete androgen insensitivity syndrome (CAIS). We further studied the effects of this mutation on the testicular histopathology of the patient. No spermatocytes were seen in the surface spreading of testicular tissues while H&E staining showed that seminiferous tubules predominantly have only Sertoli cells. To confirm this meiotic failure is likely due to the current AR mutation we performed mRNA expression of genes associated with AR pathway, expression and location of the associated proteins in testicular tissues. Western blot and real-time PCR data showed that the patient had high levels of expression of AMH, SOX9, and INNB in testis. Tubules were stained with SOX9 and AMH which revealed Sertoli cell maturation arrest. Therefore, we suggest that AR mutation enhances AMH expression which ultimately leads to failure in the maturation of Sertoli cells and failure in spermatogenesis.

Keywords: androgen receptor, spermatogenesis, infertility, Sertoli cell only syndrome

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549 Germline Mutations of Mitogen-Activated Protein Kinases Pathway Signaling Pathway Genes in Children

Authors: Nouha Bouayed Abdelmoula, Rim Louati, Nawel Abdellaoui, Balkiss Abdelmoula, Oldez Kaabi, Walid Smaoui, Samir Aloulou

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Background and Aims: Cardiofaciocutaneous syndrome (CFC) is an autosomal dominant disorder with the vast majority of cases arising by a new mutation of BRAF, MEK1, MEK2, or rarely, KRAS genes. Here, we report a rare Tunisian case of CFC syndrome for whom we identify SOS1 mutation. Methods: Genomic DNA was obtained from peripheral blood collected in an EDTA tube and extracted from leukocytes using the phenol/chloroform method according to standard protocols. High resolution melting (HRM) analysis for screening of mutations in the entire coding sequence of PTPN11 was conducted first. Then, HRM assays to look for hot spot mutations coding regions of the other genes of the RAS-MAPK pathway (RAt Sarcoma viral oncogene homolog Mitogen-Activated Protein Kinases Pathway): SOS1, SHOC2, KRAS, RAF1, KRAS, NRAS, CBL, BRAF, MEK1, MEK2, HRAS, and RIT1, were applied. Results: Heterozygous SOS1 point mutation clustered in exon 10, which encodes for the PH domain of SOS1, was identified: c.1655 G > A. The patient was a 9-year-old female born from a consanguineous couple. She exhibited pulmonic valvular stenosis as congenital heart disease. She had facial features and other malformations of Noonan syndrome, including macrocephaly, hypertelorism, ptosis, downslanting palpebral fissures, sparse eyebrows, a short and broad nose with upturned tip, low-set ears, high forehead commonly associated with bitemporal narrowing and prominent supraorbital ridges, short and/or webbed neck and short stature. However, the phenotype is also suggestive of CFC syndrome with the presence of more severe ectodermal abnormalities, including curly hair, keloid scars, hyperkeratotic skin, deep plantar creases, and delayed permanent dentition with agenesis of the right maxillary first molar. Moreover, the familial history of the patient revealed recurrent brain malignancies in the paternal family and epileptic disease in the maternal family. Conclusions: This case report of an overlapping RASopathy associated with SOS1 mutation and familial history of brain tumorigenesis is exceptional. The evidence suggests that RASopathies are truly cancer-prone syndromes, but the magnitude of the cancer risk and the types of cancer partially overlap.

Keywords: cardiofaciocutaneous syndrome, CFC, SOS1, brain cancer, germline mutation

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548 Recurrent Fevers with Weight Gain - Possible Rapid onset Obesity with Hypoventilation, Hypothalamic Dysfunction and Autonomic Dysregulation Syndrome

Authors: Lee Rui, Rajeev Ramachandran

Abstract:

The approach to recurrent fevers in the paediatric or adolescent age group is not a straightforward one. Causes range from infectious diseases to rheumatological conditions to endocrinopathies, and are usually accompanied by weight loss rather than weight gain. We present an interesting case of a 16-year-old girl brought by her mother to the General Pediatrics Clinic for concerns of recurrent fever paired with significant weight gain over 1.5 years, with no identifiable cause found despite extensive work-up by specialists ranging from Rheumatologists to Oncologists. This case provides a learning opportunity on the approach to weight gain paired with persistent fevers in a paediatric population, one which is not commonly encountered and prompts further evaluation and consideration of less common diagnoses. In a span of 2 years, the girl’s weight had increased from 55 kg at 13 years old (75th centile) to 73.9 kg at 16 years old (>97th centile). About 1 year into her rapid weight gain, she started developing recurrent fevers of documented temperatures > 37.5 – 38.6 every 2-3 days, resulting in school absenteeism when she was sent home after temperature-taking in school found her to be febrile. The rapid onset of weight gain paired with unexplained fevers prompted the treating physician to consider the diagnosis of ROHHAD syndrome. Rapid onset obesity with hypoventilation, hypothalamic dysfunction and autonomic dysregulation (ROHHAD) syndrome is a rare disorder first described in 2007. It is characterized by dysfunction of the autonomic and endocrine system, characterized by hyperphagia and rapid-onset weight gain. This rapid weight gain is classically followed by hypothalamic manifestations with neuroendocrine deficiencies, hypo-ventilatory breathing abnormalities, and autonomic dysregulation. ROHHAD is challenging to diagnose with and diagnosis is made based mostly on clinical judgement. However if truly diagnosed, the condition is characterized by high morbidity and mortality rates. Early recognition of sleep disorders breathing and targeted therapeutic interventions helps limit morbidity and mortality associated with ROHHAD syndrome. This case poses an interesting diagnostic challenge and a diagnosis of ROHHAD has to be considered, given the serious complications that can come with disease progression while conditions such as Munchausen’s or drug fever remain as diagnoses of exclusion until we have exhausted all other possible conditions.

Keywords: pediatrics, endocrine, weight gain, recurrent fever, adolescent

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547 Case Presentation Ectopic Cushing's Syndrome Secondary to Thymic Neuroendocrine Tumors Secreting ACTH

Authors: Hasan Frookh Jamal

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This is a case of a 36-year-old Bahraini gentleman diagnosed to have Cushing's Syndrome with a large anterior mediastinal mass. He was sent abroad to the Speciality hospital in Jordan, where he underwent diagnostic video-assisted thoracoscopy, partial thymectomy and pericardial fat excision. Histopathology of the mass was reported to be an Atypical carcinoid tumor with a low Ki67 proliferation index of 5%, the mitotic activity of 4 MF/10HPF and pathological stage classification(pTNM): pT1aN1. MRI of the pituitary gland showed an ill-defined non-enhancing focus of about 3mm on the Rt side of the pituitary on coronal images, with a similar but smaller one on the left side, which could be due to enhancing pattern rather than a real lesion as reported. The patient underwent Ga68 Dotate PET/CT scan post-operatively, which showed multiple somatostatin receptor-positive lesions seen within the tail, body and head of the pancreas and positive somatostatin receptor lymph nodes located between the pancreatic head and IVC. There was no uptake detected at the anterior mediastinum nor at the site of thymic mass resection. There was no evidence of any positive somatostatin uptake at the soft tissue or lymph nodes. The patient underwent IPSS, which proved that the source is, in fact, an ectopic source of ACTH secretion. Unfortunately, the patient's serum cortisol remained elevated after surgery and failed to be suppressed by 1 mg ODST and by 2 days LLDST with a high ACTH value. The patient was started on Osilodrostat for treatment of hypercortisolism for the time being and his future treatment plan with Lutetium-177 Dotate therapy vs. bilateral adrenalectomy is to be considered in an MDT meeting.

Keywords: cushing syndrome, neuroendocrine tumur, carcinoid tumor, Thymoma

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546 Eating Disorders and Eating Behaviors in Morbid Obese Women with and without Type 2 Diabetes

Authors: Azadeh Mottaghi, Zeynab Shakeri

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Background: Eating disorders (ED) are group of psychological disorders that significantly impair physical health and psychosocial function. EDconsists wide range of morbidity such as loss of eating control, binge eating disorder(BED), night eating syndrome (NES), and bulimia nervosa. Eating behavior is a wide range term that includes food choices, eating patterns, eating problems. In this study, current knowledge will be discussed aboutcomparison of eating disorders and eating behaviors in morbid obese women with and without type 2 diabetes. Methods: 231 womenwith morbid obesity were included in the study.Loss of eating control, Binge eating disorder and Bulimia nervosa, Night eating syndrome, and eating behaviors and psychosocial factorswere assessed. SPSS version 20 was used for statistical analysis. A p-value of <0.05 was considered significant. Results: There was a significant difference between women with and without diabetes in case of binge eating disorder (76.3% vs. 47.3%, p=0.001). Women with the least Interpersonal support evaluation list (ISEL) scores had a higher risk of eating disorders, and it is more common among diabetics (29.31% vs. 30.45%, p= 0.050). There was no significant difference between depression level and BDI score among women with or without diabetes. Although 38.5% (n=56) of women with diabetes and 50% (n=71) of women without diabetes had minimal depression. The logistic regression model has shown that women without diabetes had lower odds of exhibiting BED (OR=0.28, 95% CI 0.142-0.552).Women with and without diabetes with high school degree (OR=5.54, 95% CI 2.46-9.45, P= 0.0001 & OR=6.52, 95% CI 3.15-10.56, respectively) and moderate depression level (OR=2.03, 95% CI 0.98-3.95 & OR=3.12, 95% CI 2.12-4.56, P= 0.0001) had higher odds of BED. Conclusion: The result of the present study shows that the odds of BED was lower in non-diabetic women with morbid obesity. Women with morbid obesity who had high school degree and moderate depression level had more odds for BED.

Keywords: eating disorders binge eating disorder, night eating syndrome, bulimia nervosa, morbid obesity

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545 Ulnar Nerve Changes Associated with Carpal Tunnel Syndrome and Effect on Median Ersus Ulnar Comparative Studies

Authors: Emmanuel K. Aziz Saba, Sarah S. El-Tawab

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Objectives: Carpal tunnel syndrome (CTS) was found to be associated with high pressure within the Guyon’s canal. The aim of this study was to assess the involvement of sensory and/or motor ulnar nerve fibers in patients with CTS and whether this affects the accuracy of the median versus ulnar sensory and motor comparative tests. Patients and methods: The present study included 145 CTS hands and 71 asymptomatic control hands. Clinical examination was done for all patients. The following tests were done for the patients and control: (1) Sensory conduction studies: median nerve, ulnar nerve, dorsal ulnar cutaneous nerve and median versus ulnar digit (D) four sensory comparative study; (2) Motor conduction studies: median nerve, ulnar nerve and median versus ulnar motor comparative study. Results: There were no statistically significant differences between patients and control group as regards parameters of ulnar motor study and dorsal ulnar cutaneous sensory conduction study. It was found that 17 CTS hands (11.7%) had ulnar sensory abnormalities in 17 different patients. The median versus ulnar sensory and motor comparative studies were abnormal among all these 17 CTS hands. There were statistically significant negative correlations between median motor latency and both ulnar sensory amplitudes recording D5 and D4. There were statistically significant positive correlations between median sensory conduction velocity and both ulnar sensory nerve action potential amplitude recording D5 and D4. Conclusions: There is ulnar sensory nerve abnormality among CTS patients. This abnormality affects the amplitude of ulnar sensory nerve action potential. The presence of abnormalities in ulnar nerve occurs in moderate and severe degrees of CTS. This does not affect the median versus ulnar sensory and motor comparative tests accuracy and validity for use in electrophysiological diagnosis of CTS.

Keywords: carpal tunnel syndrome, ulnar nerve, median nerve, median versus ulnar comparative study, dorsal ulnar cutaneous nerve

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544 The Existence of a Sciatic Artery in Congenital Lower Limb Deformities

Authors: Waseem Al Talalwah, Shorok Al Dorazi, Roger Soames

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Persistent sciatic artery is a rare anatomical vascular variation resulting from a lack of regression of the embryonic dorsal axial artery. The axial artery is the main artery supplying the lower limb during development in the first trimester. The current research includes 206 sciatic artery cases in 171 patients between 1864 and 2012. It aims to identify the risk factor of sciatic artery aneurysm in congenital limb anomalies. Sciatic artery aneurysm was diagnosed incidentally in amniotic band syndrome (ABS) existing with no congenital anomaly in 0.7% or with double knee in 0.7%, with the tibia in 0.7% and with hemihypertrophy or soft tissue hypertrophy in 1.4%. Therefore, the current study indicates a relationship the same gene responsible for the congenital limb deformities may be responsible for non-regression of the sciatic artery. Furthermore, pediatricians should refer cases of congenital limb anomalies for vascular evaluation prior to corrective surgical intervention.

Keywords: amniotic band syndrome, congenital limb deformities, double knee, sciatic artery, sciatic artery aneurysm , soft tissue hypertrophy

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543 Neurological Complication of Bariatric Surgery: A Cross-sectional Study from Saudi Arabia

Authors: H. A. Algahtani, A. S. Khan, O. Alzahrani, N. Hussein, M. A. Khan, Loudhi Y. I. Soliman

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Objective: To report on the Saudi experience (developing country) of neurological complications from bariatric surgery. The literature on the subject is reviewed. Method: This is a cross sectional study done in King Abdul Aziz Medical City Jeddah, WR, where we reviewed all charts of the patients who underwent bariatric surgery between January 1st, 2009 to December 31st , 2014. Personal and clinical data including age, sex, BMI, comorbidities, type of procedure, duration of stay in hospital, complications and postoperative follow up were collected. In addition follow up visit and remote complication if present were collected. All patients with neurological complications were reviewed in details including their clinical examination, laboratory and imaging results, treatment and prognosis. This report is essentially descriptive with no statistical analysis performed. Results: Fifteen cases were collected in this study (3%). Axonal polyneuropathy was the most frequent neurological complica¬tion, but cases of Wernicke syndrome, vitamin B12 deficiency, Guillain-Barre syndrome and cupper deficiency were also identified. Fourteen patients (93.3%) had full recovery from the neurological signs and symptoms but unfortunately one patient died. Conclusion: Bariatric surgery, a procedure that is continuously increasing in popularity, is not free of potential neurological complications. A clear education, guidelines and follow-up program should be planned and practiced. Facts should be clearly presented to the individual undergoing this type of surgery. Although a clear cause-effect relation cannot be established for the present cases, the cumulative literature on the subject makes it important to warn the patient of the potential risks of this procedure.

Keywords: bariatric surgery, neurological complications, neuropathy, Wenicke syndrome

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542 Comparative Evaluation of the Effectiveness of Different Mindfulness-Based Interventions on Medically Unexplained Symptoms: A Systematic Review

Authors: R. R. Billones, N. Lukkahatai, L. N. Saligan

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Mindfulness based interventions (MBIs) have been used in medically unexplained symptoms (MUS). This systematic review describes the literature investigating the general effect of MBIs on MUS and identifies the effects of specific MBIs on specific MUS conditions. The preferred reporting items for systematic reviews and meta-analysis guidelines (PRISMA) and the modified Oxford quality scoring system (JADAD) were applied to the review, yielding an initial 1,556 articles. The search engines included PubMed, ScienceDirect, Web of Science, Scopus, EMBASE, and PsychINFO using the search terms: mindfulness, or mediations, or mindful or MBCT or MBSR and medically unexplained symptoms or MUS or fibromyalgia or FMS. A total of 24 articles were included in the final systematic review. MBIs showed large effects on socialization skills for chronic fatigue syndrome (d=0.65), anger in fibromyalgia (d=0.61), improvement of somatic symptoms (d=1.6) and sleep (d=1.12) for painful conditions, physical health for chronic back pain (d=0.51), and disease intensity for irritable bowel disease/syndrome (d=1.13). A manualized MBI that applies the four fundamental elements present in all types of interventions were critical to efficacy. These elements were psycho-education sessions specific to better understand the medical symptoms, the practice of awareness, the non-judgmental observance of the experience at the moment, and the compassion to ones’ self. The effectiveness of different mindfulness interventions necessitates giving attention to improve the gaps that were identified related to home-based practice monitoring, competency training of mindfulness teachers, and sound psychometric properties to measure the mindfulness practice.

Keywords: mindfulness-based interventions, medically unexplained symptoms, mindfulness-based cognitive therapy, mindfulness-based stress reduction, fibromyalgia, irritable bowel syndrome

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541 Hypotonia - A Concerning Issue in Neonatal Care

Authors: Eda Jazexhiu-Postoli, Gladiola Hoxha, Ada Simeoni, Sonila Biba

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Background Neonatal hypotonia represents a commonly encountered issue in the Neonatal Intensive Care Unit and newborn nursery. The differential diagnosis is broad, encompassing chromosome abnormalities, primary muscular dystrophies, neuropathies and inborn errors of metabolism. Aim of study Our study describes some of the main clinical features of hypotonia in newborns and presents clinical cases of neonatal hypotonia we treated in our Neonatal unit in the last 3 years. Case reports Four neonates born in our hospital presented with hypotonia after birth, one preterm newborn 35-36 weeks of gestational age and three other term newborns (38-39 weeks of gestational age). Prenatal data revealed a decrease in fetal movements in both cases. Intrapartum meconium-stained amniotic fluid was found in 75% of our hypotonic newborns. Clinical features included inability to establish effective respiratory movements and need for resuscitation in the delivery room, respiratory distress syndrome, feeding difficulties and need for oro-gastric tube feeding, dysmorphic features, hoarse voice and moderate to severe muscular hypotonia. The genetic workup revealed the diagnosis of Autosomal Recessive Congenital Myasthenic Syndrome 1-B, Sotos Syndrome, Spinal Muscular Atrophy Type 1 and Transient Hypotonia of the Newborn. Two out of four hypotonic neonates were transferred to the Pediatric Intensive Care Unit and died at the age of three to five months old. Conclusion Hypotonia is a concerning finding in neonatal care and it is suggested by decreased intrauterine fetal movements, failure to establish first breaths, respiratory distress and feeding difficulties in the neonate. Prognosis is determined by its etiology and time of diagnosis and intervention.

Keywords: hypotonic neonate, respiratory distress, feeding difficulties, fetal movements

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540 The Effectiveness of Copegus (Ribavirin) Placed in a Field of Unexplored Properties of Low-Level Laser Radiation in the Treatment of Long-Covid Syndrome

Authors: Naylya Djumaeva

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Since the end of 2019, the world has been shaken by an infection that has claimed the lives of more than six and a half million patients. Currently, SARS-CoV-2 not only causes acute damage but has long-term consequences affecting every organ and has brought a wave of a new chronic disabling condition called Long-Covid..This preliminary study describes an application of un-explored properties of low-level laser radiation with laser- light emitter in the field of which is placed Copegus (Ribavirin) with the aim of treatment of patients with Long-Covid syndrome. The difference from the traditional use of the drug is that Copegus was not prescribed to the patient by the traditional method - orally or intravenously, and the medicinal properties of the drug were introduced into the patient’s body using the un-explored properties of low-power laser radiation. Ninety eight patients with Long- Covid syndrome were observed. The obtained findings suggest that under the influence of the field formed into the laser- light emitter with a Copegus placed inside the field, the remote transfer of pharmacological properties of Сopegus occurs. Conclusions about the produced effect of exposure were made based on improvement in the condition of patients, the disappearance of complaints, and positive changes in various diagnostic tests performed by the patients. Biography: Djumaeva N completed her PhD from the Institute of Epidemiology, Microbiology and Infectious Diseases in 2000. In her dissertation work devoted to the treatment of patients with chronic hepatitis B virus infection, she presented data on the possible influence of Complex Homeopathic Preparations on the organization of bound intracellular water in the cells of the body. She is the Consultant (Neurologist) at the Scientific-Research Institute for Virology, Uzbekistan, and an expert in “medicament testing” method (30 years). She has published 43 papers, including 2 patents.

Keywords: long covid, low level laser, copegus, laser- light emmiter

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539 Prevalence of Down Syndrome: A Single-Center Study in Bandung, Indonesia

Authors: Bremmy Laksono, Riksa Parikrama, Nur A. Rosyada, Willyanti Soewondo, Dadang S. H. Effendi, Eriska Rianti, Arlette S. Setiawan, Ine Sasmita, Risti S. Primanti, Erna Kurnikasari, Yunia Sribudiani

Abstract:

Down syndrome (DS) is a chromosomal abnormality characterised by complete 21 chromosome trisomy (classical or non-disjunction), or partial 21 chromosome trisomy (mosaicism), or chromosome rearrangement involving chromosome 21 (translocation). This study was carried out to describe the frequency of DS patients in a research institution in the city of Bandung, Indonesia. This descriptive study also provides a picture of the residential location and surrounding area of their dwellings. This study involved people with DS in various age whose chromosome were evaluated by conventional karyotyping method and FISH. Data were collected from 60 patients with DS from a total 150 patients during the period of September 2015 to August 2016 who were referred to Cell Culture and Cytogenetics Laboratory, Faculty of Medicine Universitas Padjadjaran, Indonesia. Results showed that the most common type of DS was non-disjunction (93%), followed by mosaicism (5%), no patient with translocation DS (0%), and a very rare type of tetrasomy 21 (2%). There were 39 males (65%) and 21 females (35%) of DS patient. Most of them live in suburban area beyond Bandung city (55%) while the rest live inside urban area of Bandung city (45%). They live mostly in dense area of greater Bandung area (65%) and only a few live in mid-density area (25%) and the least live in sparse populated area (10%). Their houses are mostly located in residential estate area (55%), nearby industrial area (37%), and around agricultural area (8%). Based on the study, it could be concluded that non-disjunction DS is the most common type. DS patients referred to the laboratory mostly came from dense residential zone in suburban area outside Bandung city. The low number of DS patients referred to the laboratory for chromosome analysis was the highlight to improve health service for people with genetic disorder. This study offered several information regarding area of DS patients’ residence and the condition of neighbourhood in Bandung city where they live as well.

Keywords: chromosome, descriptive, Down syndrome, prevalence

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538 The Impact of Autism on Children Behavior

Authors: Marina Wagdy Nageeb Eskander

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A descriptive statistical analysis of the data showed that the most important factor evoking negative attitudes among teachers is student behavior. have been presented as useful models for understanding the risk factors and protective factors associated with the emergence of autistic traits. Although these "syndrome" forms of autism reach clinical thresholds, they appear to be distinctly different from the idiopathic or "non-syndrome" autism phenotype. Most teachers reported that kindergartens did not prepare them for the educational needs of children with autism, particularly in relation to non-verbal skills. The study is important and points the way for improving teacher inclusion education in Thailand. Inclusive education for students with autism is still in its infancy in Thailand. Although the number of autistic children in schools has increased significantly since the Thai government introduced the Education Regulations for Persons with Disabilities Act in 2008, there is a general lack of services for autistic students and their families. This quantitative study used the Teaching Skills and Readiness Scale for Students with Autism (APTSAS) to test the attitudes and readiness of 110 elementary school teachers when teaching students with autism in general education classrooms. To uncover the true nature of these co morbidities, it is necessary to expand the definition of autism to include the cognitive features of the disorder, and then apply this expanded conceptualization to examine patterns of autistic syndromes. This study used various established eye-tracking paradigms to assess the visual and attention performance of children with DS and FXS who meet the autism thresholds defined in the Social Communication Questionnaire. To study whether the autistic profiles of these children are associated with visual orientation difficulties ("sticky attention"), decreased social attention, and increased visual search performance, all of which are hallmarks of the idiopathic autistic child phenotype. Data will be collected from children with DS and FXS, aged 6 to 10 years, and two control groups matched for age and intellectual ability (i.e., children with idiopathic autism).In order to enable a comparison of visual attention profiles, cross-sectional analyzes of developmental trajectories are carried out. Significant differences in the visual-attentive processes underlying the presentation of autism in children with FXS and DS have been suggested, supporting the concept of syndrome specificity. The study provides insights into the complex heterogeneity associated with autism syndrome symptoms and autism itself, with clinical implications for the utility of autism intervention programs in DS and FXS populations.

Keywords: attitude, autism, teachers, sports activities, movement skills, motor skills

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537 A New Cytoprotective Drug on the Basis of Cytisine: Phase I Clinical Trial Results

Authors: B. Yermekbayeva, A. Gulyayaev, T. Nurgozhin, C. Bektur

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Cytisine aminophosphonate under the name "Cytafat" was approved for clinical trials in Republic of Kazakhstan as a putative liver protecting drug for the treatment of acute toxic hepatitis. A method of conducting the clinical trial is a double blind study. Total number of patients -71, aged from 16 to 56 years. Research on healthy volunteers determined the maximal tolerable doze of "Cytafat" as 200 mg/kg. Side effects when administered at high dozes (100-200 mg/kg) are tachycardia and increase of arterial blood pressure. The drug is tested in the treatment of 28 patients with a syndrome of hepatocellular failure (a poisoning with substitutes of alcohol, rat poison, or medical products). "Cytafat" was intravenously administered at a dose of 10 mg/kg in 200 ml of 5 % glucose solution once daily. The number of administrations: 1-3. In the comparison group, 23 patients were treated intravenously once a day with “Essenciale H” at a dose of 10 ml. 20 patients received a placebo (10 ml of glucose intravenously). In all cases of toxic hepatopathology the significant positive clinical effect of the testing drug distinguishable from placebo and surpassing the alternative was observed. Within a day after administration a sharp reduction of cytolitic syndrome parameters (ALT, AST, alkaline phosphatase, thymol turbidity test, GGT) was registered, a reduction of the severity of cholestatic syndrome (bilirubin decreased) was recorded, significantly decreased indices of lipid peroxidation. The following day, in all cases the positive dynamics was determined with ultrasound study (reduction of diffuse changes and events of reactive pancreatitis), hepatomegaly disappeared. Normalization of all parameters occurred in 2-3 times faster, than when using the drug "Essenciale H" and placebo. Average term of elimination of toxic hepatopathy when using the drug "Cytafat" -2,8 days, "Essenciale H" -7,2 days, and placebo -10,6 days. The new drug "Cytafat" has expressed cytoprotective properties.

Keywords: cytisine, cytoprotection, hepatopathy, hepatoprotection

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