Search results for: hyper-immunoglobulin E syndrome

Authors: Waqas Mehdi, Muhammad Umar Hassan, Khadeeja Mustafa

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Objective: Post-concussion syndrome (PCS) is a medical term used to point out the complicated combination of physical, emotional, cognitive and behavioral signs and symptoms associated with Mild Traumatic Brain Injury(mTBI). This study was conducted to assess the improvement or debilitating effect of behavioral therapy in addition to the conventional treatment and to document these results for increasing the efficiency of treatment provided to such cases. Method: This was primarily an interventional prospective cohort study which was conducted in the Department of Neurosurgery, Mayo Hospital Lahore. The sample size was 200 patients who were randomly distributed into two groups. The interventional group with Cognitive behavioral therapy was added in addition to the conventional treatment regimen and the Control group receiving only conventional treatment. Results were noted initially as well as after two weeks of the follow-up period. Data were subsequently analyzed by Statistical Package for Social Sciences (SPSS) software and associations worked out. Result and conclusion: Among the patients that were given therapy sessions along with conventional medicine, there was a significant improvement in the symptoms and their overall quality of life. It is also important to notice that the time period taken for these effects to wane is cut down by psychiatric solutions too. So we can conclude that CBT sessions not only speed up recovery in patients with post-concussion syndrome they also aid in the efficiency improvement in functional capability and quality of life.

Keywords: neurosurgery, CBT, PCS, mTBI

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Authors: Mafalda Moreira, Diana Alba, Inês Paiva Ferreira, Rita Calejo, Ana Rita Soares, Leonilde Machado

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Intellectual disability (ID) is characterized by deficits in intellectualfunctioningassociatedwithalterations in the adaptive behaviour, whose onset is inthedevelopmentalperiod. Itaffects 3% of the population, ofwhich 10% have a geneticaetiology. One of those causes isAlwadeiSyndrome, with 3 cases describedworldwide. It results from a homozygous nonsense mutation in theRUSC2 gene andisassociatedwithintellectualdisabilityanddysmorphic facialfeatures. Theauthorsreportthe case of a 5-year-old-boy, born to a healthymotherafter a full-termuneventfulpregnancy, thatwasreferred to Neurodevelopmentalconsultationdue toglobal developmentaldelay. Familyhistoryrevealedlearningdifficulties in the paternal brotherhood. Milddismorphicfeatureswereevidentsuch as darkinfraorbitalregion, low-set ears, beakednose, retrognathism, high-archedpalateandjointhyperlaxity. WechslerIntelligenceScale for Children III fullscaleIQ quoted 61. Karyotypeandchromosomalmicroarrayanalysiswerenormal, as well as the fragile X molecular study. DNA sequencingwasthenperformedandallowedtheidentificationof amutation in the RUSC2 gene. Theetiologicaldiagnosisof ID remains unknown in up to 80% of cases, creatinguncertainty in children’sfamilies. Theadvances in DNA sequencingtechnologieshaveincreasedourknowledgeofthegeneticdiseasesinvolved, as theAlwadeisyndromewasonlydescribedsince 2016. Thegeneticdiagnosisof ID allowsfamilygeneticcounselingandenablesthedevelopmentof target therapeutic approaches.

Keywords: intellectual disability, genetic aetiology, alwadei syndrome, RUSC2

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Authors: Natalia V. Naryzhnaya, Alexandr V. Mukhomedzyanov, Ivan A. Derkachev, Boris K. Kurbatov, Leonid N. Maslov

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Background: Techniques of adaptation to hypoxia and remote postconditioning (RPost) have great prospects for use in the clinic. However, recent studies have shown low efficacy of remote postconditioning in patients with AMI. We hypothesize that the reasons for this inefficiency may be metabolic disorders, which are very common, especially in patients with cardiovascular disease, and age of patients. The purpose of the study was to reveal the effectiveness of adaptation to chronic hypoxia and RPost. To determine the possible relationship between the decrease in the effectiveness of projective impacts and disorders of carbohydrate and lipid metabolism. Design: The study was carried out on Wistar rats 60 day old. MetS was induced by high-carbohydrate, high-fat diet (HСHFD). Modeling MS led to the formation of obesity, hypertension, impaired lipid and carbohydrate metabolism, hyperleptinemia, and moderate stress. Groups with adaptation to chronic hypoxia were subjected to hypoxia for 21 days at 12% O2 and 0.3% CO2 after complete of HСHFD. All animals were subjected to 45 min coronary occlusion and 120 min reperfusion. Groups with RPost, immediately after the end of ischemia, tourniquets were applied to the hind limbs in the area of the hip joint (3 times in the mode of 5 min ischemia, 5 min reperfusion). Results: RPost led to a twofold reduction of infarct size in rats with intact metabolism (р < 0.0001), while in rats with MetS, a decrease in infarct size during RPost was 25 % (p = 0.00003). A direct correlation was found between of infarct size during RPost and the serum leptin level of rats with MetC (r = 0.85). The presented data suggested that a decrease in the efficiency of remote postconditioning in rats with diet-induced metabolic syndrome depends on serum leptin. Chronic hypoxia resulted in a 38% reduced in infarct size in metabolically intact rats. The decrease of cardioprotection was observed in rats with chronic hypoxia and MetS. Infarct size showed a direct correlation with impaired glucose tolerance (AUC, glucose tolerance test, r = 0.034) and serum triglyceride levels (r = 0.39). Our study showed the dependence of cardioprotection in rats with metabolic syndrome during chronic hypoxia and DPost on opioids in the blood serum and myocardium, protein kinase C and NO synthase activity. Conclusion: The results obtained showed that the infarct-limiting efficiency of adaptation to hypoxia and remote postconditioning is reduced or completely absent in animals with metabolic syndrome. The increase in the infarction, in this case, directly depends on the disturbances in carbohydrate. lipid metabolism and opioids signaling. Funding: Investigation of effectiveness of chronic hypoxia at the metabolic syndrome was carried out within the support of Russian Science Foundation Grant 22-15-00048. Studies of the mechanisms of arterial hypertension in induced metabolic syndrome were carried out within the framework of the state assignment (122020300042-4). The work was performed using the Center for Collective Use "Medical Genomics".

Keywords: chronic hypoxia, opioids, remote postconditioning, metabolic syndrome

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Authors: Cheng-Yu Tsai, Wen-Te Liu, Chen-Chen Lo, Yin-Tzu Lin, Kang Lo

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Background: Driving fatigue related to inadequate or disordered sleep accounts for a major percentage of traffic accidents. Obstructive sleep apnea syndrome (OSAS) is a common respiratory disorder during sleep. However, the effects of OSAS severity on driving drowsiness remain unclear. Objective: The aim of this study is to investigate the relationship between OSAS severity and driving fatigue. Methodologies: The physical condition while driving was obtained from the questionnaires to classify the state of driving fatigue. OSAS severity was quantified as the polysomnography, and the mean hourly number of greater than 3% dips in oxygen saturation during examination in a hospital in New Taipei City (Taiwan). The severity of OSAS was diagnosed by the apnea and hypopnea index (AHI) with the American Academy of Sleep Medicine (AASM) guideline. The logistic regression model was used to examine the associations after adjusted age, gender, neck circumstance, waist circumstance, and body mass index (BMI). Results: There were 880 subjects recruited in this study, who had been done polysomnography for evaluating severity for OSAS as well as completed the driver condition questionnaire. 752 subjects were diagnosed with OSA, and 484 subjects had fatigue driving behavior in the past week. Patients diagnosed with OSAS had a 9.42-fold higher odds ratio (p < 0.01, 95% CI = 5.41 – 16.42) of driving drowsiness for cohorts with a normal degree. Conclusion: We observe the considerable correlation between OSAS and driving fatigue. For the purpose of promoting traffic safety, OSAS should be monitored and treated.

Keywords: obstructive sleep apnea syndrome, driving fatigue, polysomnography, apnea and hypopnea index

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Authors: F. Arslan, S.D. Guven, A. Özcan, H. Vatansev, Ö. Taşgin

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Weight, hypertension and dyslipidemia control and increased physical activity are required for the treatment of metabolic syndrome (METS). The purpose of this study was to investigate the effect of core exercise, reflexology and intake chrome picolinate on METS. This study comprised a twelve-week randomized controlled trial. A total of 25 university workers with metabolic risk factors participated in this study voluntarily. They were randomly divided into three groups: Those undertaking a core exercise program (n=7), reflexology intervention group (n=8) and intake chrome group (n=10). The subjects took part in a core exercise program for one hour per day, three days a week and a reflexology interfered for thirty minutes per day, one days a week and chrome group took chrome picolinate every day in week for twelve weeks. The components of metabolic syndrome were analyzed before and after the completion of all the intervention. There were significant differences at pre-prandial blood glucose in the core exercise group and at systolic blood pressure in chrome group after the twelve week interventions (p < 0.005). While High Density Lipoprotein (HDL) excluding the components of METS decreased after the interventions on the all groups; levels of HDL and the other components of METS decreased in reflexology group. There was a clear response to the twelve-week interventions in terms of METS control. Besides, the reflexology intervention should not be applied to individuals with low HDL levels and core exercise and intake chrome picolinate suggested to improve the components of METS.

Keywords: blood pressure, body mass index, exercise, METS, pre-prandial blood glucose

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Authors: Cheng-Yu Tsai, Wen-Te Liu, Shin-Mei Hsu, Yin-Tzu Lin, Chi Wu

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Background: Obstructive Sleep apnea syndrome (OSAS) is a common respiratory disorder during sleep. In addition, Body parameters were identified high predictive importance for OSAS severity. However, the effects of body parameters on OSAS severity remain unclear. Objective: In this study, the objective is to establish a prediction model for OSAS by using body parameters and investigate the effects of body parameters in OSAS. Methodologies: Severity was quantified as the polysomnography and the mean hourly number of greater than 3% dips in oxygen saturation during examination in a hospital in New Taipei City (Taiwan). Four levels of OSAS severity were classified by the apnea and hypopnea index (AHI) with American Academy of Sleep Medicine (AASM) guideline. Body parameters, including neck circumference, waist size, and body mass index (BMI) were obtained from questionnaire. Next, dividing the collecting subjects into two groups: training and testing groups. The training group was used to establish the random forest (RF) to predicting, and test group was used to evaluated the accuracy of classification. Results: There were 3330 subjects recruited in this study, whom had been done polysomnography for evaluating severity for OSAS. A RF of 1000 trees achieved correctly classified 79.94 % of test cases. When further evaluated on the test cohort, RF showed the waist and BMI as the high import factors in OSAS. Conclusion It is possible to provide patient with prescreening by body parameters which can pre-evaluate the health risks.

Keywords: apnea and hypopnea index, Body parameters, obstructive sleep apnea syndrome, Random Forest

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Authors: Emmanuel Kamal Aziz Saba

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Aim of the work: This study proposed to assess the role of the median versus ulnar medial thenar motor (MTM) recording in supporting the diagnosis of carpal tunnel syndrome (CTS). Patients and methods: The present study included 130 hands (70 CTS and 60 controls). Clinical examination was done for all patients. The following tests were done (using surface electrodes recording) for patients and control: (1) sensory nerve conduction studies: median nerve, ulnar nerve and median versus ulnar digit four sensory study; (2) motor nerve conduction studies: median nerve, ulnar nerve, median (second lumbrical) versus ulnar (interosseous) (2-LINT) motor study and median versus ulnar (MTM) study. Results: The tests with higher sensitivity in diagnosing CTS were median versus ulnar (2-LINT) motor latency difference (87.1%), median versus ulnar (MTM) motor latency difference (80%) and median versus ulnar digit four sensory latency differences (91.4%). There was no statistically significant difference between median versus ulnar (MTM) motor latency difference with both median versus ulnar (2-LINT) motor latency difference and median versus ulnar digit four sensory latency difference (P > 0.05) as regards the confirmation of CTS. Conclusions: Median versus ulnar (MTM) motor latency difference has high sensitivity and specificity for the diagnosis of CTS as for both median versus ulnar (2-LINT) motor latency difference and median versus ulnar digit four sensory latency differences. It can be considered a useful neurophysiological test to be used in combination with another median versus ulnar comparative tests for confirming the diagnosis of CTS beside other well-known electrophysiological tests.

Keywords: carpal tunnel syndrome, medial thenar motor, median nerve, ulnar nerve

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Authors: Othman Salim Hussein Al-Fleesy

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Background: Studies showed that sudden infant death syndrome (SIDS) has association with sleeping positions. Up-to-date no study explained how could they prevent it? Objectives: 1-To determine which sleeping position is certainly safe one to prevent SIDS. 2-To establish criteria for suggesting definition and making diagnosis for SIDS. 3-To discuss the controversy surrounding SUND, ALTE, NM, as compared to SIDS. Method: This literature review was built on a previous literature. Articles were obtained randomly according to their availability to the author. For the purpose of this work an easy approach was built by modeling an overview on SIDS topic after clarifying the misconception and misinterpretation of a number of controversial issues in regard to SIDS such as: asphyxia, sudden unexpected death among adults (Bangungut or Pokkuri), apparent life threatening event (ALTE), Nightmare, and comparing the findings with the literature review results..By this unique method we got a clue for prevention of Sudden Infant Death Syndrome. Results: The revision revealed with no doubt that no study before have studied right-side sleeping position at all. The author determined right side as the only safe position to preventing SIDS. A new definition for SIDS is suggested. The author postulated a Right side position hypothesis (Alfleesy hypothesis) which is a testable hypothesis in front of all researchers for further study . Conclusion: Our results contradict totally all previous studies and recommendations. We recommended strongly the right side position only for sleeping to prevent SIDS. New definition is suggested and a new hypothesis is postulated.

Keywords: SIDS, ALTE, nightmare, forensic sciences

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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: 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: 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

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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

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