Search results for: Pendred syndrome/nonsyndromic vestibular enlargement of aqueduct

Authors: Yuri Boiko, Iluju Kiringa, Tet Yeap

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We use modeling and simulation tools, to introduce a novel bias injection attack, named the ’Induced Pulsation Attack’, which targets Cyber Physical Systems with closed-loop controlled Brushless DC (BLDC) motor and Kalman filter driver in the feedback loop. This attack involves engaging a linear function with a constant gradient to distort the coefficient of the injected bias, which falsifies the Kalman filter estimates of the rotor’s angular speed. As a result, this manipulation interaction inside the control system causes periodic pulsations in a form of asymmetric sine wave of both current and voltage in the circuit windings, with a high magnitude. It is shown that by varying the gradient of linear function, one can control both the frequency and structure of the induced pulsations. It is also demonstrated that terminating the attack at any point leads to additional compensating effort from the controller to restore the speed to its equilibrium value. This compensation effort produces an exponentially decaying wave, which we call the ’attack withdrawal syndrome’ wave. The conditions for maximizing or minimizing the impact of the attack withdrawal syndrome are determined. Linking the termination of the attack to the end of the full period of the induced pulsation wave has been shown to nullify the attack withdrawal syndrome wave, thereby improving the attack’s covertness.

Keywords: cyber-attack, induced pulsation, bias injection, Kalman filter, BLDC motor, control system, closed loop, P- controller, PID-controller, saw-function, cyber-physical system

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Authors: Nondumiso Lushozi, Busisani Lembede, Eliton Chivandi

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Consumption of fructose increases the risk of obesity, nonalcoholic fatty liver disease (NAFLD) and metabolic syndrome in children. Zingerone which is found in ginger has antidiabetic and antiobesogenic properties. Therefore, the aim of the study was to investigate the potential of orally administered zingerone to protect growing Sprague-Dawley rats (mimicking growing children) against high-fructose diet-induced metabolic derangements. Forty, 21-day old female Sprague-Dawley rats were randomly allocated and administered the following four treatments for 12 weeks: group I: standard rat chow (SR) + plain water (PW) + plain gelatine cube (PC). group II: SR + 20% (w/v) fructose solution (FS) + PC. group III: SR + FS + 100 mg/kg/day of fenofibrate in gelatine cube. group IV: SR+ FS + 20 mg/kg/day of zingerone in gelatine cube. The rats’ triglyceride, cholesterol, insulin & adiponectin concentration, visceral fat liver lipid content, homoeostasis model assessment of insulin resistance (HOMA-IR) and ability to handle glucose were determined. Oral administration of zingerone significantly increased (P<0.001) visceral fat and liver lipid content (P<0.001), respectively. Results from the study revealed that administration of 20% fructose solution did not induce metabolic dysfunction, however the zingerone treatment increased visceral fat and liver lipid content, all these lipid abnormalities are typical features of the metabolic syndrome, therefore the current study suggests that zingerone has no effect on metabolic dysfunction in adolescent females.

Keywords: antidiabetic, metabolic syndrome, zingerone, antiobesogenic

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Authors: Alireza Abdiardekani, Maryam Salimi, Shirin Sarejloo, Mehdi Bazrafshan, Amir Askarinejad, Amirhossein Salimi, Hanieh Bazrafshan, Salar Javanshir, Armin Attar, Shokoufeh Khanzadeh, Mohsen Esmaeili, Hamed Bazrafshan Drissi

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Background: Opium, after tobacco, is the most abused substance in the Middle East. The effects of opium use on coronary artery disease are indeed unclear. This study aimed to assess the association between opium use and angiographic findings in patients with acute coronary syndrome (ACS) diagnosis at Al-Zahra Heart Hospital, Shiraz, Iran. Methods: In this case-control study, 170 patients admitted for coronary angiography were enrolled from 2019 to 2020. They were categorized into two groups based on their history: "non-opium" and "opium." SPSS (Version 26) was used to investigate the correlation between opioid addiction and the severity of coronary artery disease. Results: The results of our study reveal that the mean age of the participants was 61.63±9.07. This study indicated that 49 (28.82%) patients were female, and 121 (71.17%) were male. Our findings revealed that three-vessel disease was more frequent in non-opium (40; 47.05%) and opium (45; 52.94%) groups. There was a significant correlation between the severity of the second diagonal artery(D2) and right coronary artery(RCA) involvement and opium consumption. There was a strong positive correlation between the location of the vascular lesion in the left circumflex artery and opium consumption. Conclusion: Opium, as an independent risk factor for cardiovascular diseases, can have specific effects on angiographic findings in patients with coronary artery disease. Public health officials and politicians should arrange several programs to increase the general population’s consciousness about opioid use and its consequences.

Keywords: acute coronary syndrome, opium, coronary artery disease, angiography

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Authors: Afia Naheed, Manmohan Singh, David Lucy

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This work is based on a mathematical as well as statistical study of an SEIJTR deterministic model for the interpretation of transmission of severe acute respiratory syndrome (SARS). Based on the SARS epidemic in 2003, the parameters are estimated using Runge-Kutta (Dormand-Prince pairs) and least squares methods. Possible graphical and numerical techniques are used to validate the estimates. Then effect of the model parameters on the dynamics of the disease is examined using sensitivity and uncertainty analysis. Sensitivity and uncertainty analytical techniques are used in order to analyze the affect of the uncertainty in the obtained parameter estimates and to determine which parameters have the largest impact on controlling the disease dynamics.

Keywords: infectious disease, severe acute respiratory syndrome (SARS), parameter estimation, sensitivity analysis, uncertainty analysis, Runge-Kutta methods, Levenberg-Marquardt method

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Authors: Jelena Maletkovic

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Background: Endogenous Cushing’s syndrome is a rare disease, but iatrogenic or drug related Cushing syndrome from glucocorticoid products is commonly seen in clinical practice. With high dose and long term use of glucocorticoids, patients can develop isolated hypothalamic-pituitary-adrenal (HPA) suppression, or HPA axis suppression can be accompanied by overt iatrogenic Cushing’s syndrome. This is a rare case where severe Cushing’s syndrome developed from an unknown medication and was followed by severe and prolonged adrenal insufficiency and multiple potentially fatal complications. Case: This is a 37-year-old woman who is presented to Emergency Room (ER) with shortness of breath and chest pain. Four months prior to this presentation the patient was a generally healthy woman who was looking for improvement in her appearance and visited local Rejuvenation Clinic. After initial consultation with a nurse, she was contacted by a physician over the phone and was advised to start taking multiple injectable medications that will arrive by mail. Medications without any labels on bottles were delivered and the patient started daily intramuscular injections. Over the next two months, she noticed rounding of her face and swelling around her eyes. She gained 20 pounds, mostly abdominal fat and became extremely fatigued. Her muscles on legs were visibly decreasing in size and she felt significant muscle weakness. Unexplained bruising occurred. She started growing hair on face and developed secondary amenorrhea. New severe back pain started. She developed depression and headaches. Finally, over a few days, a number of red-purple stretch marks that were sensitive and painful appeared over her abdomen, upper part of arms and legs. She then became suspicious that these dramatic symptoms are caused by injectable medication and she discontinued injections. Over the next few days she presented to ER with low blood pressure and oxygen saturation of 75%. Studies revealed extensive pneumonia as well as multiple pulmonary emboli. Her white blood count was elevated with 32 000 and she also had acute kidney failure on admission. She was treated for sepsis and was also given stress dose steroids. Steroids were tapered over 48 hours and discontinued. After being discharged to home, on her first visit to endocrinology clinic she had undetectable ACTH of < 2pg/mL and undetectable 8am cortisol of < 0.2mcg/dL. She did not respond to an intramuscular injection of cosyntropin 250mcg and her repeated cortisol after 60 minutes was only 1mcg/dL. The patient was diagnosed with adrenal insufficiency and was started on hydrocortisone 20mg+10mg. It took close to 2 years of slow tapering for recovery of this patient’s HPA axis and resolve all the sequelae from Cushing’s syndrome. Conclusion: Misuse and abuse of glucocorticoids have been present almost since these medications were discovered. This is a rare case where not only severe Cushing’s syndrome in full clinical picture developed but also the patient suffered multiple potentially fatal complications and prolonged adrenal insufficiency. Visits to herbal, rejuvenation, esthetic, and similar clinics are becoming more and more popular and physicians need to be aware of possible non-benign nature of medications that their patients may be using.

Keywords: iatrogenic, Cushing's syndrome, adrenal crisis, steroid abuse

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Authors: Jae Ni Jang, SoYoon Park, Sukhee Park, Yumin Song, Jae Won Kim, Keum Nae Kang, Young Uk Kim

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Objectives: Patellofemoral pain syndrome (PFPS) is a common clinical condition characterized by anterior knee pain. Here, we investigated the quadriceps tendon cross-sectional area (QTCSA) as a novel predictor for the diagnosis of PFPS. By examining the association between the QTCSA and PFPS, we aimed to provide a more valuable diagnostic parameter and more equivocal assessment of the diagnostic potential of PFPS by comparing the QTCSA with the quadriceps tendon thickness (QTT), a traditional measure of quadriceps tendon hypertrophy. Patients and Methods: This retrospective study included 30 patients with PFPS and 30 healthy participants who underwent knee magnetic resonance imaging. T1-weighted turbo spin echo transverse magnetic resonance images were obtained. The QTCSA was measured on the axial-angled phases of the images by drawing outlines, and the QTT was measured at the most hypertrophied quadriceps tendon. Results: The average QTT and QTCSA for patients with PFPS (6.33±0.80 mm and 155.77±36.60 mm², respectively) were significantly greater than those for healthy participants (5.77±0.36 mm and 111.90±24.10 mm2, respectively; both P<0.001). We used a receiver operating characteristic curve to confirm the sensitivities and specificities for both the QTT and QTCSA as predictors of PFPS. The optimal diagnostic cutoff value for QTT was 5.98 mm, with a sensitivity of 66.7%, a specificity of 70.0%, and an area under the curve of 0.75 (0.62–0.88). The optimal diagnostic cutoff value for QTCSA was 121.04 mm², with a sensitivity of 73.3%, a specificity of 70.0%, and an area under the curve of 0.83 (0.74–0.93). Conclusion: The QTCSA was found to be a more reliable diagnostic indicator for PFPS than QTT.

Keywords: patellofemoral pain syndrome, quadriceps muscle, hypertrophy, magnetic resonance imaging

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Authors: Emna Abid, Linda Chebbi, Yosra Mabrouk, Amel Labidi, Lamia Mansour

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Werner syndrome (WS) is a rare genetic disorder inherited in an autosomal recessive pattern characterized by accelerated aging. While extensive research has been conducted on its systemic manifestations, the specific dental implications of WS remain poorly understood. The medical history and the oral health status of two patients diagnosed with WS were detailed. Our findings revealed a high prevalence of dental problems in both patients, including periodontitis, xerostomia, and temporomandibular joint disorders. This article aims to investigate the dental challenges faced by individuals with WS as well as the prosthetic options envisaged through two clinical cases contributing to a deeper understanding of the dental implications of WS and to choose the appropriate prosthetic solution in this population. Future research should focus on larger scale studies and clinical trials to validate these proposed strategies.

Keywords: adult progeria, clinical symptoms, oral manifestations, dental care, prosthetic management

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Authors: Rim Frikha, Nouha Bouayed, Afifa Sellami, Nozha Chakroun, Salima Douad, Leila Keskes, Tarek Rebai

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Recurrent pregnancy loss (RPL), classically defined as the occurrence of two or more failed pregnancies, is a serious reproductive problem, in which, chromosomal rearrangements in either carrier are a major cause; mainly the chromosome aneuploidy. This study was conducted to determine the frequency and contribution of X-chromosome aneuploidy in recurrent pregnancy loss. A retrospective study was carried out among 100 couples with more than 2 miscarriages, referred to our genetic counseling. In all the cases the detailed reproductive histories were taken. Chromosomal analysis was performed using RHG banding in peripheral blood. Of a total of 100 couples; 3 patients with a detected X-chromosome aneuploidy were identified with an overall frequency of 3%. Chromosome abnormalities are as below: a Turner syndrome with 45, X/46, XX mosaicism, a 47, XXX, and a Klinefelter syndrome with 46, XY/47, XXY. These data show a high incidence of X-chromosome aneuploidy; mainly with mosaicism; in RPL. Thus, couples with such chromosomal abnormality should be referred to a clinical geneticist with whom the option of pre-implantation genetic diagnosis in subsequent pregnancy should be discussed.

Keywords: aneuploidy, genetic testing, recurrent pregnancy loss, X-chromosome

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Authors: Atoui Oussama, Maazoun Azer, Belkassem Bachir, Pyl Lincy, Lecompte David

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For many decades, researchers have been focused on understanding the dynamic behavior of different structures and materials subjected to fragment impact or blast loads separately. The explosion mechanics, as well as the impact physics studies dealing with the numerical modeling of the response of protective structures under the synergistic effect of a blast wave and the impact of fragments, are quite limited in the literature. This article numerically evaluates the nonlinear dynamic behavior and damage mechanisms of Aluminum plates EN AW-1050A- H24 under different combined loading scenarios varied by the sequence of the applied loads using the commercial software LS-DYNA. For one hand, with respect to the terminal ballistic field investigations, a Lagrangian (LAG) formulation is used to evaluate the different failure modes of the target material in case of a fragment impact. On the other hand, with respect to the blast field analysis, an Arbitrary Lagrangian-Eulerian (ALE) formulation is considered to study the fluid-structure interaction (FSI) of the shock wave and the plate in case of a blast loading. Four different loading scenarios are considered: (1) only blast loading, (2) only fragment impact, (3) blast loading followed by a fragment impact and (4) a fragment impact followed by blast loading. From the numerical results, it was observed that when the impact load is applied to the plate prior to the blast load, it suffers more severe damage due to the hole enlargement phenomenon and the effects of crack propagation on the circumference of the damaged zone. Moreover, it was found that the hole from the fragment impact loading was enlarged to about three times in diameter as compared to the diameter of the projectile. The validation of the proposed computational model is based in part on previous experimental data obtained by the authors and in the other part on experimental data obtained from the literature. A good correspondence between the numerical and experimental results is found.

Keywords: computational analysis, combined loading, explosion mechanics, hole enlargement phenomenon, impact physics, synergistic effect, terminal ballistic

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Authors: Tzu-Hao Li, Yen-Ying Kung, Chang-Youh Tsai

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Oral dryness is a common chief complaint among patients with Sjőgren syndrome (SS), which is a disorder currently known as autoantibodies production; however, to author’s best knowledge, there has been no satisfying pharmacy to relieve the associated symptoms. Hence the effectiveness of other non-pharmacological interventions such as acupuncture should be accessed. We conducted a meta-analysis of randomized clinical trials (RCTs) which evaluated the effectiveness of xerostomia in SS. PubMed, Embase, Cochrane Central Register of Controlled Trials (CENTRAL), Chongqing Weipu Database (CQVIP), China Academic Journals Full-text Database, AiritiLibrary, Chinese Electronic Periodicals Service (CEPS), China National Knowledge Infrastructure (CNKI) Database were searches through May 12, 2018 to select studies. Data for evaluation of subjective and objective xerostomia was extracted and was assessed with random-effects meta-analysis. After searching, a total of 541 references were yielded and five RCTs were included, covering 340 patients dry mouth resulted from SS, among whom 169 patients received acupuncture and 171 patients were control group. Acupuncture group was associated with higher subjective response rate (odds ratio 3.036, 95% confidence interval [CI] 1.828 – 5.042, P < 0.001) and increased salivary flow rate (weighted mean difference [WMD] 3.066, 95% CI 2.969 – 3.164, P < 0.001), as an objective marker. In addition, two studies examined IgG levels, which were lower in the acupuncture group (WMD -166.857, 95% CI -233.138 - -100.576, P < 0.001). Therefore, in the present meta-analysis, acupuncture improves both subjective and objective markers of dry mouth with autoantibodies reduction in patients with SS and is considered as an option of non-pharmacological treatment for SS.

Keywords: acupuncture, meta-analysis, Sjogren syndrome, xerostomia

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Authors: Vibha Kriti

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Background: Polycystic ovary syndrome (PCOS) is a common endocrine disorder generally found in reproductive women. It is associated with significant reproductive, metabolic, cosmetic, and psychological consequences. Objective: There is a high prevalence of PCOS found among reproductive-age women, therefore, the major objective of the present study is to identify the illness perception of PCOS women and to explore the relationship between illness perception and health-related quality of life (HRQoL). Material and Method: A cross-sectional study was conducted in a university tertiary-care center, Sir Sunder Lal Hospital, Banaras Hindu University (B.H.U). Tools used for data collection were self-structured, which included socio-demographic status, illness perception questionnaire (revised version), and short-form 36 for assessing illness perception and health-related quality of life, respectively. Statistical analysis was done by SPSS version ‘24’. Results: The results of correlation analyses indicated that there is a strong relationship between strong illness perception and HRQoL. Stepwise regression indicated that illness identity, long illness duration, and severe consequences were associated with the worse outcome on emotional functioning and on social functioning. A high score on the controllability of the disease and seeking social support was significantly related to better functioning. Conclusion: Illness perception is an important factor in self-care behaviors in PCOS females and has a strong association with health-related quality of life and has a profound effect on it.

Keywords: polycystic ovary syndrome, illness perception, quality of life, young females, mental health

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Authors: Ching-Yi Yiu, Hui-Chen Hsu

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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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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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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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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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Authors: Humaira Saeed Malik, Salma Saad

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Introduction: Fowler's syndrome, first described by Clare Fowler in 1985, is a rare urological condition characterized by difficulty in urination due to the abnormal function of the urethral sphincter. It predominantly affects young women and leads to chronic urinary retention. The main concern in managing this condition is ensuring regular bladder emptying. Clam cystoplasty is a bladder augmentation surgery in which the bladder is clam-shelled open, and a segment of the intestine is used to increase the bladder's capacity and reduce bladder pressure. The Mitrofanoff procedure, a surgical creation of a continent urinary diversion, is often performed in patients with Fowler's syndrome who require long-term catheterization. This procedure involves creating a conduit (from the appendix or a segment of the small intestine) between the bladder and the skin, allowing for intermittent self-catheterization to manage urinary retention. Study: This case study examines a 39-year-old gravida 3, para 0+2 woman with a BMI of 40, Fowler's syndrome, type I diabetes, and post-traumatic stress disorder (PTSD), presenting at Dumfries and Galloway Royal Infirmary at 8 weeks of gestation. Diagnosed with Fowler's syndrome at 23, . A sacral nerve stimulator (SNS) device was initially placed but was subsequently removed after one year due to malfunction caused by trauma, subsequently she had undergone clam cystoplasty and the Mitrofanoff procedure for bladder management. Her pregnancy was complicated by vaginal bleeding at 10 weeks, treated with progesterone pessaries, and a urinary tract infection at 14 weeks, managed with antibiotics. Despite these challenges, she continued self-catheterization through the Mitrofanoff stoma and was placed on prophylactic antibiotics. Her diabetes was well-controlled on insulin, and a 20-week fetal anomaly scan was normal. The multidisciplinary team, including an obstetrician and a urologist, planned for serial growth scans and the initiation of low molecular weight heparin (LMWH) from 28 weeks due to the intermediate risk of venous thromboembolism (VTE) and to continue six weeks after delivery. A planned cesarean delivery at 37 weeks was arranged, with an MRI scan scheduled later in the pregnancy to assist in surgical planning, ensuring the preservation of the Mitrofanoff stoma's function. The surgery will occur in an elective setting and include a consultant urologist. Conclusion: Pregnancy in women with Fowler's syndrome who have undergone Clam cystoplasty and the Mitrofanoff procedure is rare, and management requires careful planning and a multidisciplinary approach. This case highlights the importance of individualized care plans and close monitoring of both mother and fetus. The patient's risk of recurrent UTIs, coupled with her diabetes and high BMI, necessitated coordinated care across specialties to ensure the best possible outcomes. The Mitrofanoff procedure proved effective in managing her urinary retention, allowing her to maintain self-catheterization during pregnancy. The multidisciplinary team approach was crucial in addressing her complex medical needs, involving obstetrics, urology, and endocrinology. This case adds valuable information to the limited literature on pregnancy management in patients with Fowler's syndrome who have undergone the Mitrofanoff procedure, highlighting the need for comprehensive, individualized care and the involvement of a multidisciplinary team to achieve the best results.

Keywords: fowler's syndrome, clam cystoplasty, mitrofanoff procedure, pregnancy

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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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Authors: Suehyun Cho, Darrell Harrington, Florent Cros, Olin Palmer, John Caputo, Michael Kardosh, Eran Oren, William Loudon, Alex Kiselyov, Michael Shpigelmacher

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The Dandy-Walker malformation (DWM) represents a clinical syndrome manifesting as a combination of posterior fossa cyst, hypoplasia of the cerebellar vermis, and obstructive hydrocephalus. Anatomic hallmarks include hypoplasia of the cerebellar vermis, enlargement of the posterior fossa, and cystic dilatation of the fourth ventricle. Current treatments of DWM, including shunting of the cerebral spinal fluid ventricular system and endoscopic third ventriculostomy (ETV), are frequently clinically insufficient, require additional surgical interventions, and carry risks of infections and neurological deficits. Bionaut Labs develops an alternative way to treat Dandy-Walker Malformation (DWM) associated with non-communicating hydrocephalus. We utilize our discreet microsurgical Bionaut™ particles that are controlled externally and remotely to perform safe, accurate, effective fenestration of the Dandy-Walker cyst, specifically in the posterior fossa of the brain, to directly normalize intracranial pressure. Bionaut™ allows for complex non-linear trajectories not feasible by any conventional surgical techniques. The microsurgical particle safely reaches targets in the lower occipital section of the brain. Bionaut™ offers a minimally invasive surgical alternative to highly involved posterior craniotomy or shunts via direct fenestration of the fourth ventricular cyst at the locus defined by the individual anatomy. Our approach offers significant advantages over the current standards of care in patients exhibiting anatomical challenge(s) as a manifestation of DWM, and therefore, is intended to replace conventional therapeutic strategies. Current progress, including platform optimization, Bionaut™ control, and real-time imaging and in vivo safety studies of the Bionauts™ in large animals, specifically the spine and the brain of ovine models, will be discussed.

Keywords: Bionaut™, cerebral spinal fluid, CSF, cyst, Dandy-Walker, fenestration, hydrocephalus, micro-robot

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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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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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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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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

Procedia PDF Downloads 174

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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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

Procedia PDF Downloads 126

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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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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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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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

Procedia PDF Downloads 307

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

Procedia PDF Downloads 143

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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