Search results for: Angelman Syndrome

Authors: Arman Kishan, Mark Haft, Kiyanna Thomas, Duc Nguyen, Dawn Laporte

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Objective: Patients receiving anticoagulation therapy frequently experience increased rates of postoperative complications. Presently, limited data exist regarding the outcomes of patients undergoing carpal tunnel release surgery (CTR) while on anticoagulation. Our objective is to examine and compare the occurrence of complications in patients on anticoagulation who underwent either endoscopic CTR (ECTR) or open CTR (OCTR) for CTS. Methods: The Trinet X database was utilized to retrospectively identify patients who underwent OCTR or ECTR while concurrently on anticoagulation. Demographic data, medical comorbidities, and complication rates were analyzed. We used multivariable analysis to identify differences in postoperative complications, including wound infection within 90 days, wound dehiscence within 90 days, and intraoperative median nerve injury between the two surgical methods in patients on anticoagulation. Results: A total of 10,919 carpal tunnel syndrome patients on anticoagulation were included in the study, with 9082 and 1837 undergoing OCTR and ECTR, respectively. Among patients on anticoagulation, those undergoing ECTR exhibited a significantly lower occurrence of 90-day wound infection (p < 0.001) and nerve injury (p < 0.001) compared to those who underwent OCTR. However, there was no statistically significant difference in the risk of 90-day wound dehiscence between the two groups (p = 0.323). Conclusion:  In prior studies, ECTR demonstrated reduced rates of postoperative complications compared to OCTR in the general population. Our study demonstrates that among patients on anticoagulation, those undergoing ECTR experienced a significantly lower incidence of 90-day wound infection and nerve injury, with risk reductions of 35% and 40%, respectively. These findings support using ECTR as a preferred surgical method for patients with CTS who are on anticoagulation therapy.

Keywords: endoscopic treatment of carpal tunnel syndrome, open treatment of carpal tunnel syndrome, postoperative complications in patients on anticoagulation, carpal tunnel syndrome

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Authors: Akulov M. A., Orlova O. R., Zaharov V. O., Tomskij A. A.

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Introduction: One of the common postoperative complications of posterior cranial fossa (PCF) and cerebello-pontine angle tumor treatment is a facial nerve palsy, which leads to multiple and resistant to treatment impairments of mimic muscles structure and functions. After 4-6 months after facial nerve palsy with insufficient therapeutic intervention patients develop a postparalythic syndrome, which includes such symptoms as mimic muscle insufficiency, mimic muscle contractures, synkinesis and spontaneous muscular twitching. A novel method of treatment is the use of a recent local neuromuscular blocking agent– botulinum toxin A (BTA). Experience of BTA treatment enables an assumption that it can be successfully used in late facial nerve palsy complications to significantly increase quality of life of patients. Study aim. To evaluate the efficacy of botulinum toxin A (BTA) (Xeomin) treatment in patients with late facial nerve palsy complications. Patients and Methods: 31 patients aged 27-59 years 6 months after facial nerve palsy development were evaluated. All patients received conventional treatment, including massage, movement therapy etc. Facial nerve palsy developed after acoustic nerve tumor resection in 23 (74,2%) patients, petroclival meningioma resection – in 8 (25,8%) patients. The first group included 17 (54,8%) patients, receiving BT-therapy; the second group – 14 (45,2%) patients continuing conventional treatment. BT-injections were performed in synkinesis or contracture points 1-2 U on injured site and 2-4 U on healthy side (for symmetry). Facial nerve function was evaluated on 2 and 4 months of therapy according to House-Brackman scale. Pain syndrome alleviation was assessed on VAS. Results: At baseline all patients in the first and second groups demonstrated аpostparalytic syndrome. We observed a significant improvement in patients receiving BTA after only one month of treatment. Mean VAS score at baseline was 80,4±18,7 and 77,9±18,2 in the first and second group, respectively. In the first group after one month of treatment we observed a significant decrease of pain syndrome – mean VAS score was 44,7±10,2 (р<0,01), whereas in the second group VAS score was as high as 61,8±9,4 points (p>0,05). By the 3d month of treatment pain syndrome intensity continued to decrease in both groups, but, the first group demonstrated significantly better results; mean score was 8,2±3,1 and 31,8±4,6 in the first and second group, respectively (р<0,01). Total House-Brackman score at baseline was 3,67±0,16 in the first group and 3,74±0,19 in the second group. Treatment resulted in a significant symptom improvement in the first group, with no improvement in the second group. After 4 months of treatment House-Brockman score in the first group was 3,1-fold lower, than in the second group (р<0,05). Conclusion: Botulinum toxin injections decrease postparalytic syndrome symptoms in patients with facial nerve palsy.

Keywords: botulinum toxin, facial nerve palsy, postparalytic syndrome, synkinesis

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Authors: Greg Zimmerman

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Background: Major depression is a common illness that affects millions of people globally. It is the leading cause of disability and is projected to become the number one cause of the global burden of disease by 2030. Many of those who suffer from depression also suffer from Irritable Bowel Syndrome (IBS). Acupuncture has been shown to help depression. The aim of this study was to investigate the effectiveness of acupuncture in reducing the risk of IBS in patients with depression. Methods: We enrolled patients diagnosed with depression through the Taiwanese National Health Insurance Research Database (NHIRD). Propensity score matching was used to match equal numbers (n=32971) of the acupuncture cohort and no-acupuncture cohort based on characteristics including sex, age, baseline comorbidity, and medication. The Cox regression model was used to compare the hazard ratios (HRs) of IBS in the two cohorts. Results: The basic characteristics of the two groups were similar. The cumulative incidence of IBS was significantly lower in the acupuncture cohort than in the no-acupuncture cohort (Log-rank test, p<0.001). Conclusion: The results provided real-world evidence that acupuncture may have a beneficial effect on IBS risk reduction in patients with depression.

Keywords: acupuncture, depression, irritable bowel syndrome, national health insurance research database, real-world evidence

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Authors: Shams Khaled Abdelrahman Abdallah Elbaz, Alaa Aldeen Abd Al Hakeem Balbaa

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Purpose: The purpose of this study was to compare the effects of Positional Release Technique versus Kinesio Tape on pain level, pressure pain threshold level and functional disability in patients with back myofascial pain syndrome at iliocostalis lumborum. Backgrounds/significance: Myofascial Pain Syndrome is a common muscular pain syndrome that arises from trigger points which are hyperirritable, painful and tender points within a taut band of skeletal muscle. In more recent literature, about 75% of patients with musculoskeletal pain presenting to a community medical centres suffer from myofascial pain syndrome.Iliocostalis lumborum are most likely to develop active trigger points. Subjects: Thirty patients diagnosed as back myofascial pain syndrome with active trigger points in iliocostalis lumborum muscle bilaterally had participated in this study. Methods and materials: Patients were randomly distributed into two groups. The first group consisted of 15 patients (8 males and 7 females) with mean age 30.6 (±3.08) years, they received positional release technique which was applied 3 times per session, 3/week every other day for 2 weeks. The second group consisted of 15 patients(5 males, 10 females) with a mean age 30.4 (±3.35) years, they received kinesio tape which was applied and changed every 3 days with one day off for a total 3 times in 2 weeks. Both techniques were applied over trigger points of the iliocostalis lumborum bilaterally. Patients were evaluated pretreatment and posttreatment program for Pain intensity (Visual analogue scale), pressure pain threshold (digital pressure algometry), and functional disability (The Oswestry Disability Index). Analyses: Repeated measures MANOVA was used to detect differences within and between groups pre and post treatment. Then the univariate ANOVA test was conducted for the analysis of each dependant variable within and between groups. All statistical analyses were done using SPSS. with significance level set at p<0.05 throughout all analyses. Results: The results revealed that there was no significant difference between positional release technique and kinesio tape technique on pain level, pressure pain threshold and functional activities (p > 0.05). Both groups of patients showed significant improvement in all the measured variables (p < 0.05) evident by significant reduction of both pain intensity and functional disability as well as significant increase of pressure pain threshold Conclusions : Both positional release technique and kinesio taping technique are effective in reducing pain level, improving pressure pain threshold and improving function in treating patients who suffering from back myofascial pain syndrome at iliocostalis lumborum. As there was no statistically significant difference was proven between both of them.

Keywords: positional release technique, kinesio tape, myofascial pain syndrome, Iliocostalis lumborum

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Authors: Rahul Magazine, Shobitha Rao

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The aim of this study was to study the prescribing pattern of drugs in patients with ARDS (Acute Respiratory Distress Syndrome) managed at a tertiary care hospital. This observational study was conducted at Kasturba Hospital, Karnataka, India. Data of patients admitted from January 2010 to December 2012 was collected. A total of 150 patients of ARDS were included. Data included patients’ age, gender, clinical disorders precipitating ARDS, and prescribing pattern of drugs. The mean age of the study population was 42.92±13.91 years. 48% of patients were less than 40 years of age. Infection was the cause of ARDS in 81.3% of subjects. Antibiotics were prescribed in all the subjects and beta-lactams were prescribed in 97.3%. 41.3% were prescribed corticosteroids, 39.3% diuretics and 89.3% intravenous fluids. Infection was the commonest etiology for ARDS, and beta-lactams were the commonest antibiotics prescribed. Corticosteroids and diuretics were prescribed in a significant number of patients. Most of the patients received intravenous fluids.

Keywords: acute respiratory syndrome, beta lactams, corticosteroids, Acute Respiratory Distress Syndrome (ARDS)

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Authors: Paul M. H. J. Roekaerts

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In recent years, it became clear that much intensive care (ICU) survivors develop a post-intensive care syndrome (PICS) consisting of psychiatric, cognitive and physical problems for a prolonged period after their ICU stay. Physical inactivity and delirium during the ICU stay are the main determinants of the post-ICU PICS. This presentation will focus on delirium, its epidemiology, prevalence, effect on outcome, risk factors and the current standard of care for managing delirium. Because ICU delirium is a predictor of prolonged length-of-stay in the ICU and of death, the use of a delirium prevention bundle (DPB) becomes mandatory in every ICU. In this presentation, a DPB bundle will be discussed consisting of six components: pain, sedation, sleep, sensory and intellectual stimulation, early mobilization, and hydration. For every of the six components, what to do and what not to do will be discussed. The author will present his own institutional policy on pharmacological and non-pharmacological interventions in the management of delirium. The component ‘early mobilization’ will be discussed more in detail, as this component is extremely important in the prevention of delirium as well as in the prevention of the PICS. The author will conclude his presentation with the remaining areas of uncertainties/work and research to be done.

Keywords: delirium, delirium prevention bundle, early mobilisation in intensive care (ICU), post-intensive care syndrome (PICS)

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Authors: Ahuja Ashish, Nain Prabhdeep Singh

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Introduction: Polycystic ovarian syndrome(PCOS) is the most common endocrine disorder among women of reproductive age.Pcos encompasses a broad spectrum of signs&symptoms of ovary dysfunction,obesity,blood pressure,insulin resistance & infertility. Bariatric Surgery can be an effective means of weight loss in Pcos & curing infertility. Materials and Methods: 15 female patients were enrolled in the study from 2012-2014.66%(n=10) were in age group of 20-25 years,33%(n=5) were in age group of 25-33 years who underwent. Bariatric surgery in form of Laproscopic sleeve Gastrectomy(LSG)& Roux-en-Y gastric bypass. LSG 73%(n=11), RYGB26% (n=4). Results: There was a significant improvement in obesity (60% excess weight loss)over 1 year after bariatric surgery, in 12 patients there was gross improvement in restoration of menstrual cycle who had irregular menstrual cycle. In 80% patients the serum insulin level showed normal value. Over two years 8 patients become pregnant. Conclusions: 1)Obese women with Pcos maybe able to conceive after Bariatric Surgery. 2) Women with Pcos should only consider bariatric surgery if they were already considering it for other reasons to treat obesity, blood pressure & other co-morbid conditions.

Keywords: obesity, bariatric surgery, polycystic ovarian syndrome, infertility

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Authors: Okan Cakir, Okan Tatli

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Acute motor and sensory axonal neuropathy (AMSAN) syndrome usually occurs following a postviral infection in two to four weeks and is a polyneuropathy characterized by axonal and sensorial degeneration as a rare variant of Gullian-Barre syndrome. In our case, we wanted to mention that a rare case of AMSAN Syndrome due to prior surgery. A 61-year-old male case admitted to emergency department with complaints of weakness in feet, numbness and incapability to walk. In his history, it was learned that endovascular aneurysm repair (EVAR) had applied for abdominal aort aneurysm two weeks ago before admission, his complaints had been for a couple of days increasingly and bilaterally, and there had been no infection disease history for four weeks. In physical examination, general status was good, vital signs were stable, and there was a mild paresis in dorsal flexion of feet in bilaterally lower extremities. No nuchal rigidity was determined. Other system examinations were normal. Urea:52 mg/dL (normal range: 15-44 mg/dL), creatinine: 1,05 mg/dL (normal range: 0,81-1,4 mg/dL), potassium: 3,68 mmol/L (normal range: 3,5-5,5 mmol/L), glycaemia: 142 mg/dL, calcium: 9,71 mg/dL (normal range: 8,5-10,5 mg/dL), erythrocyte sedimentation rate (ESR): 74 mm/h (normal range: 0-15 mm/h) were determined in biochemical tests. The case was consulted to neurology department and hospitalized. In performing electromyography, it was reported as a bilateral significant axonal degeneration with sensory-motor polyneuropathy. Normal ranges of glycaemia and protein levels were detected in lumbal punction. Viral markers and bucella, toxoplasma, and rubella markers were in normal range. Intravenous immunoglobulin (IVIG) was applied as a treatment, physical treatment programme was planned and the case discharged from neurology department. In our case, we mentioned that it should be considered polyneuropathy as an alternative diagnosis in cases admitting symptoms like weakness and numbness had a history of prior surgery.

Keywords: AMSAN Syndrome, emergency department, prior surgery, weakness

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Authors: Dipanshu Sur, Ratnabali Chakravorty

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Background: Polycystic ovary syndrome (PCOS) is the most common metabolic abnormality such as changes in lipid profile, diabetes, hypertension and metabolic syndrome occurring in young women of reproductive age. Low vitamin D levels were found to be associated with the development of obesity and insulin resistance in women with PCOS. Variants on vitamin D receptor (VDR) gene have also been related to metabolic comorbidities in general population. Aim: The aim of this case-control study was to investigate whether the VDR gene polymorphisms are associated with susceptibility to PCOS. Methods: Women with PCOS and a control group, all aged 16-40 years, were enrolled. Genotyping of VDR Fok-I (rs2228570), VDR Apa-I (rs7975232) as well as GC (rs2282679), DHCR7 (rs12785878) SNPs between groups were determined by using direct sequencing. Serum 25-hydroxyvitamin D [25(OH)] levels were measured by ELISA. Results: Mean serum 25(OH)D in the PCOS and control samples were 19.08±7 and 23.27±6.03 (p=0.048) which were significantly lower in PCOS patients compared with controls. CC genotype of the VDR Apa-I SNP was same frequent in PCOS (25.6%) and controls (25.6%) (OR: 0.9995; 95%CI: 0.528 to 1.8921; p= 0.9987). The CC genotype was also significantly associated with both lower E2 (p=0.031) and Androstenedione levels (p=0.062). We observed a significant association of GC polymorphism with 25(OH)D levels. PCOS women carrying the GG genotype (in GC genes) had significantly higher risk for vitamin D deficiency than women carrying the TT genotype. Conclusions: In conclusion, data from this study indicate that vitamin D levels are lower, and vitamin D deficiency more frequent, in PCOS than in controls. The present findings suggest that the Apa-I, Fok-I polymorphism of the VDR gene is associated with PCOS and seems to modulate ovarian steroid secretion. Further studies are needed to better clarify the biological mechanisms by which the polymorphism influences PCOS risk.

Keywords: vitamin D receptor, polymorphism, vitamin D, polycystic ovary syndrome

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Authors: Amita Jain, Shantanu Prakash, Suruchi Shukla

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Introduction: Acute encephalitis syndrome (AES) is a complex multi etiology syndrome posing a great public health problem in the northern part of India. Japanese encephalitis (JE) virus is an established etiology of AES in this region. Recently, Scrub typhus (ST) is being recognized as an emerging aetiology of AES in JE endemic belt. This study was conducted to establish the direct evidence of Central nervous system invasion by Orientia tsutsugamushi leading to AES. Methodology: A total of 849 cases with clinical diagnosis of AES were enrolled from six districts (Deoria and its adjoining area) of the traditional north Indian Japanese encephalitis (JE) belt. Serum and Cerebrospinal fluid samples were collected and tested for major agent causing acute encephalitis. AES cases either positive for anti-ST IgM antibodies or negative for all tested etiologies were investigated for ST-DNA by real-time PCR. Results: Of these 505 cases, 250 patients were laboratory confirmed for O. tsutsugamushi infection either by anti-ST IgM antibodies positivity (n=206) on serum sample or by ST-DNA detection by real-time PCR assay on CSF sample (n=2) or by both (n=42).Total 29 isolate could be sequenced for 56KDa gene. Conclusion: All the strains were found to cluster with Gilliam strains. The majority of the isolates showed a 97–99% sequence similarity with Thailand and Cambodian strains. Gilliam strain of O.tsusugamushi is an emerging as one of the major aetiologies leading to AES in northern part of India.

Keywords: acute encephalitis syndrome, O. tsutsugamushi, Gilliam strain, North India, cerebrospinal fluid

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Authors: V. V. Povoroznyuk, Lar. P. Martynyuk, N. I. Dzerovych, Lil. P. Martyntyuk

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Objective: Menopause-related changes in female body are associated with the greater risk of metabolic syndrome (MS), which includes obesity, dyslipidemia, impaired glucose tolerance, hypertension. The aim of our study was to reveal peculiarities of fat and lean mass distribution between postmenopausal women with abdominal obesity and with MS. Materials and Methods: The sample consisted of 43 postmenopausal 60 – 69 years old women (age: mean = 64,8; S.D. = 0,4); duration of menopause: mean = 14,5; S.D.= 0,9). The diagnosis of MS was considered according to IDF (2005 yr) criteria. Lean and fat mass distrubution were measured by dual-energy X-ray absortiometry, and were compared for the cohorts with and without MS. Data were analyzed using Statistical Package 6.0 (Statsoft). Results: Findings revealed that 24 (55,8 %) of postmenopausal women had MS. In patients with and without MS compared, fat mass was higher in the former group (41248,25±2263,89 and 29817,68±2397,78 respectively; F=11,9; p=0,001) and at different body regions also: gynoid fat (6563,72±348,19 and 5115,21±392,43 respectively; F=7,6; p=0,008), android fat (3815,45±200,8128 and 2798,15±282,79 respectively; F=9,06; p=0,004. Lean mass comparing didn’t show significant differences in female with and without MS (42548,0±1239,18 and 40667,53±1223,78 respectively; F=1,1; p=0,29) and at different body regions also. Conclusion: These findings suggest that in postmenopausal women with MS there is prevalence of fat mass without increasing of lean mass quantity in compare to female with abdominal obesity without MS.

Keywords: lean mass, fat mass, овesity, metabolic syndrome, women, postmenopausal period

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Authors: Mohamed Hendawy Mousa, Warda Youssef Mohamed Morsy

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Background: Sepsis is a major cause of mortality and morbidity in trauma patients. Body mass index as an indicator of nutritional status was reported as a predictor of injury pattern and complications among critically ill injured patients. Aim: The aim of this study is to investigate the relationship between body mass index and the development of sepsis, systemic inflammatory response syndrome among adult trauma patients at emergency hospital - Cairo University. Research design: Descriptive correlational research design was utilized in the current study. Research questions: Q1. What is the body mass index profile of adult trauma patients admitted to the emergency hospital at Cairo University over a period of 6 months?, Q2. What is the frequency of systemic inflammatory response syndrome and sepsis among adult trauma patients admitted to the emergency hospital at Cairo University over a period of 6 months?, and Q3. What is the relationship between the development of sepsis, systemic inflammatory response syndrome and body mass index among adult trauma patients admitted to the emergency hospital at Cairo University over a period of 6 months?. Sample: A purposive sample of 52 adult male and female trauma patients with revised trauma score 10 to 12. Setting: The Emergency Hospital affiliated to Cairo University. Tools: Four tools were utilized to collect data pertinent to the study: Socio demographic and medical data tool, Systemic inflammatory response syndrome assessment tool, Revised Trauma Score tool, and Sequential organ failure assessment tool. Results: The current study revealed that, (61.5 %) of the studied subjects had normal body mass index, (25 %) were overweight, and (13.5 %) were underweight. 84.6% of the studied subjects had systemic inflammatory response syndrome and 92.3% were suffering from mild sepsis. No significant statistical relationship was found between body mass index and occurrence of Systemic inflammatory response syndrome (2= 2.89 & P = 0.23). However, Sequential organ failure assessment scores were affected significantly by body mass index was found mean of initial and last Sequential organ failure assessment score for underweight, normal and obese where t= 7.24 at p = 0.000, t= 16.49 at p = 0.000 and t= 9.80 at p = 0.000 respectively. Conclusion: Underweight trauma patients showed significantly higher rate of developing sepsis as compared to patients with normal body weight and obese. Recommendations: based on finding of this study the following are recommended: replication of the study on a larger probability sample from different geographical locations in Egypt; Carrying out of further studies in order to assess the other risk factors influencing trauma outcome and incidence of its complications; Establishment of standardized guidelines for managing underweight traumatized patients with sepsis.

Keywords: body mass index, sepsis, systemic inflammatory response syndrome, adult trauma

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Authors: Mohamed A. Eid, Sobhy M. Aly, Marwa M. Ibrahim, Nadia L. Radwan

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To investigate the interaction effects of vitamin D supplementation combined with aerobic exercises (AE) and conventional physical therapy program (CPTP) on balance and physical performance in children with Down syndrome (DS).Methods: A randomized controlled trial was conducted for 38 children with DS, with ages ranging from 8 to 12 years. They were divided randomly to two groups. The control group (n=19) received the CPTP, while the study group (n=19) received the CPTP, AE, and vitamin D in the form of an oral daily dose of vitamin D3 400 IU (Cholecalciferol). Evaluation of balance by using the Biodex Stability System and physical performance by using the six-minute walk test (6MWT)was performed before and after 12 weeks of the treatment program. Findings: All groups showed a significant improvement in balance and physical performance after treatment (p < 0.05). The study group showed a significant improvement in balance and physical performancecompared with that of the control group (p < 0.05). Conclusion: Vitamin D supplementation combined with AE and CPTP could improve balance and physical performance in children with DS. Therefore, vitamin D and AEshould be considered as adjunctive to the rehabilitation program of these children.

Keywords: aerobic exercises, balance, down syndrome, physical performance, vitamin D

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Authors: Anitha Naittee Abraham, N. Sreedevi

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Individuals with Down syndrome (DS) have relatively better expressive language compared to other individuals with intellectual disabilities. Reduced speech intelligibility is one of the major concerns of this group of individuals due to their anatomical and physiological differences. The study investigated the vowel articulation of Malayalam speaking children with DS in the age range of 5-10 years. The vowel production of 10 children with DS was compared with typically developing children in the same age range. Vowels were extracted from 3 words with the corner vowels /a/, /i/ and /u/ in the word-initial position, using Praat (version 5.3.23) software. Acoustic analysis was based on vowel space area (VSA), Formant centralization ration (FCR) and F2i/F2u. The findings revealed increased formant values for the control group except for F2a and F2u. Also, the experimental group had higher FCR, lower VSA, and F2i/F2u values suggestive of imprecise vowel articulation due to restricted tongue movements. The results of the independent t-test revealed a significant difference in F1a, F2i, F2u, VSA, FCR and F2i/F2u values between the experimental and control group. These findings support the fact that children with DS have imprecise vowel articulation that interferes with the overall speech intelligibility. Hence it is essential to target the oromotor skills to enhance the speech intelligibility which in turn benefit in the social and vocational domains of these individuals.

Keywords: Down syndrome, FCR, vowel articulation, vowel space

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Authors: Andi Aliah Hidayani, Asmi Citra Malina A. R. Tassakka, Andi Parenrengi

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Vanname Shrimp is one of the high yielding varieties that are more resistant to virus attacks. However, now this shrimp more death due to virus attack such as white spot disease caused by white spot syndrome virus (WSSV). Various efforts have done to prevent the disease, like immunostimulatory, probiotics, and vaccine. White spot syndrome virus (WSSV) envelope protein VP19 gene is important because of its involvement in the system infection of shrimp. This study aimed to isolate and characterize an envelope protein VP19 – encoding gene of WSSV using WSSV infected Vanname Shrimp sample from some areas in South Sulawesi (Pangkep, Barru and Pinrang). The genomic of DNA were isolated from shrimp muscle using DTAB-CTAB method. Isolation of gene encoding envelope protein VP19 WSSV ws successfully performed with the results of the length of DNA fragment was 387 bp. The results of homology analysis using BLASTn homology suggested that these isolates genes from Barru, Pangkep and Pinrang have closest relationship with isolates from Mexican.

Keywords: vanname, shrimp, WSSV, viral protein 19

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Authors: Muhammad Fiaz, Muhammad Saqlain, Bernard M. Y. Cheung, S. M. Saqlan Naqvi, Ghazala Kaukab Raja

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Background: Association of C allele of rs662799 SNP of APOA5 gene with metabolic syndrome (MetS) has been reported in different populations around the world. A case control study was conducted to explore the relationship of rs662799 variants (T/C) with the MetS and the associated risk phenotypes in a population of Pakistani origin. Methods: MetS was defined according to the IDF criteria. Blood samples were collected from the Pakistan Institute of Medical Sciences, Islamabad, Pakistan for biochemical profiling and DNA extraction. Genotyping of rs662799 was performed using mass ARRAY, iPEX Gold technology. A total of 712 unrelated case and control subjects were genotyped. Data were analyzed using Plink software and SPSS 16.0. Results: The risk allele C of rs662799 showed highly significant association with MetS (OR=1.5, Ρ=0.002). Among risk phenotypes, dyslipidemia, and obesity showed strong association with SNP (OR=1.49, p=0.03; OR =1.46, p=0.01) respectively in models adjusted for age and gender. Conclusion: The rs662799C allele is a significant risk marker for MetS in the local Pakistani population studied. The effect of the SNP is more on dyslipidemia than the other components of the MetS.

Keywords: metabolic syndrome, APOA5, rs662799, dyslipidemia, obesity

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Authors: Md. Baki Billah, Suraiya Parveen, Shuvra Kanti Dey

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Bangladesh is earning a lot of foreign currency by exporting shrimp, but this industry is facing a tremendous problem due to the infection of white spot syndrome virus (WSSV). This study was undermined to develop rapid detection method of WSSV. A total of shrimp samples 240 collected from the 12 shrimp farms of different coastal regions (Satkhira, Khulna, and Bagerhat) were analyzed by conventional PCR using VP28 and VP664 gene-specific primers. In satkhira, Bagerhat and Khulna 39, 41 and 29 samples were found WSSV positive respectively. Real-time PCR using 71-bp amplicon for VP664 gene correlated well with conventional PCR data. The prevalence rates of WSSV among the collected 240 samples were Satkhira 38%, Khulna 47% and Bagerhat 50%. Molecular analysis of the VP28 gene sequences of WSSV revealed that Bangladeshi strains phylogenetically affiliated to the strains belong to India. This work concluded that WSSV infections are widely distributed in the coastal regions cultured shrimp in Bangladesh. Physico-chemical parameters were within the range of fish culture.

Keywords: coastal regions of Bangladesh, PCR, shrimp, white spot syndrome virus

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Authors: Dipanshu Sur, Ratnabali Chakravorty

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Introduction: Polycystic ovary syndrome (PCOS) is the most common metabolic abnormality such as changes in lipid profile, diabetes, hypertension and metabolic syndrome occurring in women. Hypovitaminsis D was found to be associated with the development of obesity and insulin resistance in women with PCOS. Aim: To evaluate the association of vitamin D levels in obese and non-obese patients with PCOS in an East Indian populations. Methods: A case control study was conducted. It enrolled 100 cases of PCOS based on Rotterdam criteria and 100 ovulatory normal cases matched for their age and BMI. Vitamin D levels were compared in the obese and non-obese PCOS groups and also with the controls. Results: The mean age of subjects was 29.48 ± 3.29 years in the PCOS group and 26.24 ± 2.56 years in the control group. Hypovitaminosis D was present in 75 out of 100 PCOS women (75.0%) and 25 women (25.0%) showed sufficient 25OHD levels ≥30 ng/ml. Women with PCOS had significantly lower total serum calcium (8.4 ± 0.25 mg/dl versus 9.8 ± 0.17 mg/dl in controls), and 25 OHD (21.2 ± 2.56 ng/ml versus 32.6 ± 2.23 ng/ml in control group) than ovulatory normal women. This difference remained significant for both groups after adjustment for BMI. Obese women in both groups had significantly lower concentration of calcium and 25OHD than normal weight patients in this study. Conclusion: Our study shows majority of the patients and controls had vitamin D deficiency and there was significant difference in the vitamin D levels in PCOS group and controls as well as obese and non-obese groups. This may reflect the vitamin D deficiency status of the community. Vitamin D deficiency should demands immediate attention as it is a severe problem among the East Indian population.

Keywords: vitamin D deficiency, polycystic ovary syndrome, obese, hypovitaminsis D

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Authors: Nura Lawal, Lawal Suleiman Bilbis, Rabiu Aliyu Umar, Anas A. Sabir

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Metabolic syndrome (MS) a high-risk condition involving obesity, dyslipidemia, hypertension, and diabetes mellitus is prevalent in Nigeria. The study aims to formulate an antioxidant-rich nutraceutical from locally available foodstuff (onion, garlic, ginger, tomato, lemon, palm oil, watermelon seeds) and investigate their effects on blood pressure, body weight, serum glucose, lipid profile, insulin and oxidative stress markers in salt-induced rats. The rats were placed on 8% salt diet for 6 weeks and then supplementation and treatment with nutraceutical and nifedipine in the presence of salt diet for additional 4 weeks. Feeding rats with salt diet for 6 weeks increased blood pressure and body weight of the salt-loaded rats relative to control. Significant (P < 0.001) increase in serum blood glucose and lipid profile, and the decrease in high-density lipoprotein-cholesterol (HDL-C) was observed in salt-loaded rats as compared with control. Both supplementation and treatment (nifedipine) lowered the blood pressure but the only supplementation lowered the body weight. Supplementation with nutraceutical resulted in significant (P < 0.001) decrease in the serum blood glucose, lipid profile, malonyldialdehyde (MDA), insulin levels, insulin resistance, and increased HDL-C and antioxidant indices. The percentage protection against atherogenesis was 76.5±2.13%. There is strong positive correlation between blood pressure, body weight and serum blood glucose, lipid profile, markers of oxidative stress and strong negative correlation with HDL-C and antioxidant status. The results suggest that the nutraceuticals are useful in reversing most of the component of metabolic syndrome and might be beneficial in the treatment of patients with metabolic syndrome.

Keywords: metabolic syndrome, hypertension, diabetes mallitus, obesity

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Authors: Mihai-Ionut Firescu, Mark A. P. Carson

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We present a case of inferior vena cava agenesis (IVCA) associated with bilateral deep venous thrombosis (DVT) in a patient with Beckwith-Wiedemann syndrome (BWS). In adult patients with BWS presenting with bilateral lower limb oedema, specific aetiological factors should be considered. These include cardiomyopathy and intraabdominal tumours. Congenital malformations of the IVC, through causing relative venous stasis, can lead to lower limb oedema either directly or indirectly by favouring lower limb venous thromboembolism; however, they are yet to be reported as an associated feature of BWS. Given its life-threatening potential, the prompt initiation of treatment for bilateral DVT is paramount. In BWS patients, however, this can prove more complicated. Due to overgrowth, the above-average birth weight can continue throughout childhood. In this case, the patient’s weight reached 170 kg, impacting on anticoagulation choice, as direct oral anticoagulants have a limited evidence base in patients with a body mass above 120 kg. Furthermore, the presence of IVCA leads to a long-term increased venous thrombosis risk. Therefore, patients with IVCA and bilateral DVT warrant specialist consideration and may benefit from multidisciplinary team management, with hematology and vascular surgery input. Conclusion: Here, we showcased a rare cause for bilateral lower limb oedema, respectively bilateral deep venous thrombosis complicating IVCA in a patient with Beckwith-Wiedemann syndrome. The importance of this case lies in its novelty, as the association between IVC agenesis and BWS has not yet been described. Furthermore, the treatment of DVT in such situations requires special consideration, taking into account the patient’s weight and the presence of a significant, predisposing vascular abnormality.

Keywords: Beckwith-Wiedemann syndrome, bilateral deep venous thrombosis, inferior vena cava agenesis, venous thromboembolism

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Authors: Ben Clapperton, Daniel Stahl, Kimberley Goldsmith, Trudie Chalder

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Chronic fatigue syndrome (CFS) is a condition characterised by chronic disabling fatigue and other symptoms that currently can't be explained by any underlying medical condition. Although clinical trials support the effectiveness of cognitive behaviour therapy (CBT), the success rate for individual patients is modest. Patients vary in their response and little is known which factors predict or moderate treatment outcomes. The aim of the project is to develop a prediction model from baseline characteristics of patients, such as demographics, clinical and psychological variables, which may predict likely treatment outcome and provide guidance for clinical decision making and help clinicians to recommend the best treatment. The project is aimed at identifying subgroups of patients with similar baseline characteristics that are predictive of treatment effects using modern cluster analyses and data mining machine learning algorithms. The characteristics of these groups will then be used to inform the types of individuals who benefit from a specific treatment. In addition, results will provide a better understanding of for whom the treatment works. The suitability of different clustering methods to identify subgroups and their response to different treatments of CFS patients is compared.

Keywords: chronic fatigue syndrome, latent class analysis, prediction modelling, self-organizing maps

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Authors: Bita Rabbani, Hossein Chiti, Faranak Sharifi, Saeedeh Mazloomzadeh

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Background: Lifestyle modifications, especially improving nutritional patterns and increasing physical activity, are the most important factors in preventing obesity and metabolic syndrome in children and adolescents. For this purpose, the following interventional study was designed to investigate the effects of educational programs for students, as well as changes in diet and physical activity, on obesity and components of the metabolic syndrome. Methods: This study is part of an interventional research project (elementary school) conducted on all students of Sama schools in Zanjan and Abhar in three levels of elementary, middle, and high school, including 1000 individuals in Zanjan (intervention group) and 1000 individuals (control group) in Abhar in 2011. Interventions were based on educating students, teachers, and parents, changes in food services, and physical activity. We primarily measured anthropometric indices, fasting blood sugar, lipid profiles, and blood pressure and completed standard nutrition and physical activity questionnaires. Also, blood insulin levels were randomly measured in a number of students. Data analysis was done by SPSS software version 16.0. Results: Overall, 589 individuals (252 male, 337 female) entered the case group, and 803 individuals (344 male, 459 female) entered the control group. After two years of intervention, mean waist circumference (63.8 ± 10.9) and diastolic BP (63.8 ± 10.4) were significantly lower; however, mean systolic BP (10.1.0 ± 12.5), food score (25.0 ± 5.0) and drinking score (12.1 ± 2.3) were higher in the intervention group (p<0.001). Comparing components of metabolic syndrome between the second year and at time of recruitment within the intervention group showed that although number of overweight/obese individuals, individuals with hypertriglyceridemia and high LDL increased, abdominal obesity, high BP, hyperglycemia, and insulin resistance decreased (p<0.001). On the other hand, in the control group, number of individuals with high BP increased significantly. Conclusion: The prevalence of abdominal obesity and hypertension, which are two major components of metabolic syndrome, are much higher in our study than in other regions of country. However, interventions for modification of diet and increase in physical activity are effective in lowering their prevalence.

Keywords: metabolic syndrome, obesity, life style, nutrition, hypertension

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Authors: Keshari Shrestha, Philip Vatterott

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Introduction: Drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome is a rare and potentially fatal drug-related syndrome. DRESS classically presents with a diffuse maculopapular rash, fevers, and eosinophilia more than three weeks after drug exposure. DRESS can present with multi-organ involvement, with liver damage being the most common and severe. Pulmonary involvement is a less common manifestation and is associated with poor clinical outcomes. Chest imaging is often nonspecific, and symptoms can range from mild cough to acute respiratory distress syndrome (ARDS) . This is a case of a 49-year-old female with a history of recent clostridium difficile colitis status post treatment with oral vancomycin who presented with rash, acute liver and kidney failure, as well as diffuse nodular alveolar lung opacities concerning for DRESS syndrome with multi-organ involvement. Clinical Course: This patient initially presented to an outside hospital with clostridium difficile colitis, acute liver injury, and acute kidney injury. She developed a desquamating maculopapular rash in the setting of recent oral vancomycin, meloxicam, and furosemide initiation. She was hospitalized on two additional occasions with worsening altered mental status, liver injury, and acute kidney injury and was initiated on intermittent hemodialysis. Notably, she was found to have systemic eosinophilia (4100 cells/microliter) several weeks prior. She was transferred to this institution for further management where she was found to have encephalopathy, jaundice, lower extremity edema, and diffuse bilateral rhonchorous breath sounds on pulmonary examination. The patient was started on methylprednisolone for suspected DRESS syndrome. She underwent an evaluation for alternative causes of her organ failure. Her workup included a negative infectious, autoimmune, metabolic, toxic, and malignant work-up. Abdominal computed tomography (CT) and ultrasound were remarkable for evidence of hepatic steatosis and possible cirrhotic morphology. Additionally, a chest CT demonstrated diffuse and symmetric nodular alveolar lung opacities with peripheral sparing not consistent with acute respiratory distress syndrome or edema. Ultimately, her condition continued to decline, and she required intubation on several occasions. On hospital day 25 she succumbed to distributive shock in the setting of probable sepsis and multi-organ failure. Discussion: DRESS syndrome occurs in 1 in 1,000 to 10,000 patients with a mortality rate of around 10%. Anti-convulsant, anti-bacterial, anti-viral, and sulfonamide drugs are the most common drugs implicated in the development of DRESS syndrome; however, the list of offending agents is extensive . The diagnosis of DRESS syndrome is made after excluding other causes of disease such as infectious and autoimmune etiologies. The RegiSCAR scoring system is used to diagnose DRESS syndrome with 2-3 points indicating possible disease, 4-5 probable disease, and >5 definite disease. This patient scored a 7 on the RegiSCAR scale for eosinophilia, rash, organ involvement, and exclusion of other causes (infectious and autoimmune). While the pharmacologic trigger in this case is unknown, it is speculated to be caused by vancomycin, meloxicam, or furosemide due to the favorable timeline of initiation. Despite aggressive treatment, DRESS syndrome can often be fatal. Because of this, early diagnosis and treatment of patients with suspected DRESS syndrome is imperative.

Keywords: drug reaction with eosinophilia and systemic symptoms, multi-organ failure, pulmonary involvement, renal failure

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Authors: Sarah Sayed El- Tawab, Emmanuel Kamal Azix Saba

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Objectives: Somatosensory blink reflex (SBR) is an eye blink response obtained from electrical stimulation of peripheral nerves or skin area of the body. It has been studied in various neurological diseases as well as among healthy subjects in different population. We designed this study to detect SBR positivity in patients with facial palsy and patients with post facial syndrome, to relate the facial palsy severity and the presence of SBR, and to associate between trigeminal BR changes and SBR positivity in peripheral facial palsy patients. Methods: 50 patients with peripheral facial palsy and post-facial syndrome 31 age and gender matched healthy volunteers were enrolled to this study. Facial motor conduction studies, trigeminal BR, and SBR were studied in all. Results: SBR was elicited in 67.7% of normal subjects, in 68% of PFS group, and in 32% of PFP group. On the non-paralytic side SBR was found in 28% by paralyzed side stimulation and in 24% by healthy side stimulation among PFP patients. For PFS group SBR was found on the non- paralytic side in 48%. Bilateral SBR elicitability was higher than its unilateral elicitability. Conclusion: Increased brainstem interneurons excitability is not essential to generate SBR. The hypothetical sensory-motor gating mechanism is responsible for SBR generation.

Keywords: somatosensory evoked blink reflex, post facial syndrome, blink reflex, enchanced gain

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Authors: Nadeem Bashir, Ghulam Mustafa Peerzada

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The present study pertains to the nonlinear behavior of acetaminophen based uncatalyzed Belousov-Zhabotinsky (BZ) oscillator and its dynamics in the presence of Ferroin as the catalyst. The role of free metal ions as catalysts was examined and the results compared with corresponding complexed catalysts. Free metal ions were found to be sluggish with respect to the evolution of the oscillatory regime as compared to complexed ones. Effect of change of the ligand moiety of the catalyst complex on the oscillatory parameters was monitored. Since ethanol potentiates the hepatotoxicity caused by acetaminophen in-vivo, it is thought to understand this interaction by virtue of causing perturbation of the acetaminophen based oscillator with different concentrations of the ethanol with and without ferroin as the catalyst. Another dimension to the ethanol effect was added by perturbation of the system with ethanol at different stages of the reaction so as to get an idea whether it is acetaminophen or some reactive intermediate generated in the reaction system which reacts with ethanol. Further, the ferroin-catalyzed oscillator is taken as a prototype inorganic model of the acetaminophen-ethanol syndrome, as ferroin and HOBr were inorganic replacements to Cyt P450 and NADPH in the alcohol metabolism.

Keywords: Belousov-Zhabotinsky reaction, ferroin, Paracetamol-Ethanol syndrome, kinetics

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Authors: Camelia Porey, Binaya Kumar Jaiswal

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BACKGROUND: Antiphospholipid antibody (APLA) syndrome is an autoimmune disorder predisposing to thrombotic complications affecting CNS either by arterial vasooclusion or venous thrombosis. Cerebral venous sinus thrombosis (CVST) secondarily causes raised intracranial pressure (ICP). However, intracranial hypertension without evidence of CVST is a rare entity. Here we present two cases of elevated ICP with absence of identifiable CVST. CASE SUMMARY: Case 1, 28-year female had a 2 months history of holocranial headache followed by bilateral painless vision loss reaching lack of light perception over 20 days. CSF opening pressure was elevated. Fundoscopy showed bilateral grade 4 papilledema. MRI revealed a partially empty sella with bilateral optic nerve tortuosity. Idiopathic intracranial hypertension (IIH) was diagnosed. With acetazolamide, there was complete resolution of the clinical and radiological abnormalities. 5 months later she presented with acute onset right-sided hemiparesis. MRI was suggestive of acute left MCA infarct.MR venogram was normal. APLA came positive with high titres of Anticardiolipin and Beta 2 glycoprotein both IgG and IgM. Case 2, 23-year female, presented with headache and diplopia of 2 months duration. CSF pressure was elevated and Grade 3 papilledema was seen. MRI showed bilateral optic nerve hyperintensities with nerve head protrusion with normal MRV. APLA profile showed elevated beta 2 glycoprotein IgG and IgA. CONCLUSION: This is an important non thrombotic complication of APLA syndrome and requires further large-scale study for insight into the pathogenesis and early recognition to avoid future complications.

Keywords: APLA syndrome, idiopathic intracranial hypertension, MR venogram, papilledema

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Authors: Soumaya Mrabet, Imen Akkari, Amira Atig, Elhem Ben Jazia

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Introduction: Primary biliary cirrhosis (PBC) is a cholestatic cholangitis of unknown etiology. It is frequently associated with autoimmune diseases, which explains their systematic screening. The aim of our study was to determine the prevalence and the type of autoimmune disorders associated with PBC and to assess their impact on the prognosis of the disease. Material and methods: It is a retrospective study over a period of 16 years (2000-2015) including all patients followed for PBC. In all these patients we have systematically researched: dysthyroidism (thyroid balance, antithyroid autoantibodies), type 1 diabetes, dry syndrome (ophthalmologic examination, Schirmer test and lip biopsy in case of Presence of suggestive clinical signs), celiac disease(celiac disease serology and duodenal biopsies) and dermatological involvement (clinical examination). Results: Fifty-one patients (50 women and one men) followed for PBC were collected. The Mean age was 54 years (37-77 years). Among these patients, 30 patients(58.8%) had at least one autoimmune disease associated with PBC. The discovery of these autoimmune diseases preceded the diagnosis of PBC in 8 cases (26.6%) and was concomitant, through systematic screening, in the remaining cases. Autoimmune hepatitis was found in 12 patients (40%), defining thus an overlap syndrome. Other diseases were Hashimoto's thyroiditis (n = 10), dry syndrome (n = 7), Gougerot Sjogren syndrome (n=6), celiac disease (n = 3), insulin-dependent diabetes (n = 1), scleroderma (n = 1), rheumatoid arthritis (n = 1), Biermer Anemia (n=1) and Systemic erythematosus lupus (n=1). The two groups of patients with PBC with or without associated autoimmune disorders were comparable for bilirubin levels, Child-Pugh score, and response to treatment. Conclusion: In our series, the prevalence of autoimmune diseases in PBC was 58.8%. These diseases were dominated by autoimmune hepatitis and Hashimoto's thyroiditis. Even if their association does not seem to alter the prognosis, screening should be systematic in order to institute an early and adequate management.

Keywords: autoimmune diseases, autoimmune hepatitis, primary biliary cirrhosis, prognosis

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Authors: Kuni Vergauwen, Ivan P. J. Huijnen, Astrid Depuydt, Jasmine Van Regenmortel, Mira Meeus

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A lower activity level and imbalanced activity pattern are frequently observed in persons with chronic fatigue syndrome (CFS) / myalgic encephalomyelitis (ME) due to debilitating fatigue and post-exertional malaise (PEM). Identification of measurement instruments to evaluate the activity level and pattern is therefore important. The objective is to identify measurement instruments suited to evaluate the activity level and/or pattern in patients with CFS/ME and review their psychometric properties. A systematic literature search was performed in the electronic databases PubMed and Web of Science until 12 October 2016. Articles including relevant measurement instruments were identified and included for further analysis. The psychometric properties of relevant measurement instruments were extracted from the included articles and rated based on the COnsensus-based Standards for the selection of health Measurement INstruments (COSMIN) checklist. The review was performed and reported according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) statement. A total of 49 articles and 15 unique measurement instruments were found, but only three instruments were evaluated in patients with CFS/ME: the Chronic Fatigue Syndrome-Activity Questionnaire (CFS-AQ), Activity Pattern Interview (API) and International Physical Activity Questionnaire-Short Form (IPAQ-SF), three self-report instruments measuring the physical activity level. The IPAQ-SF, CFS-AQ and API are all equally capable of evaluating the physical activity level, but none of the three measurement instruments are optimal to use. No studies about the psychometric properties of activity monitors in patients with CFS/ME were found, although they are often used as the gold standard to measure the physical activity pattern. More research is needed to evaluate the psychometric properties of existing instruments, including the use of activity monitors.

Keywords: chronic fatigue syndrome, data collection, physical activity, psychometrics

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Authors: Zuhrotun Ulya, Muchammad Syamsulhadi, Debree Septiawan

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Patients with bipolar disorder are three times more likely to suffer cardiovascular disorders than the general population, which will influence their level of morbidity and rate of mortality. Bipolar disorder also affects the pulmonary system. The choice of long term-monotherapy and other combinative therapies have clinical impacts on patients. This study investigates the case of a woman who has been suffering from bipolar disorder for 16 years, and who has a history of Steven Johnson Syndrome. At present she is suffering also from cardiovascular and pulmonary disorder. An analysis of the results of this study suggests that there is a relationship between cardiovascular disorder, drug therapies, Steven Johnson Syndrome and mood stabilizer obtained from the PubMed, Cochrane, Medline, and ProQuest (publications between 2005 and 2015). Combination therapy with mood stabilizer is recommended for patients who do not have side effect histories from these drugs. The replacement drugs and combinations may be applied, especially for those with bipolar disorders, and the combination between atypical antipsychotic groups and mood stabilizers is often made. Clinicians, however, should be careful with the patients’ physical and metabolic changes, especially those who have experienced long-term therapy and who showed a history of Steven Johnson Syndrome (for which clinicians probably prescribed one type of medicine).

Keywords: cardiopulmonary disease, bipolar disorder, SJS, therapy

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Authors: Rong Wang

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Objective: The aim is to summarize the Solute Carrier Family 26 Member 4 (SLC26A4) mutations and clinical phenotypic characteristics of patients with Pendred syndrome/nonsyndromic enlarged vestibular aqueduct (PS/NSEVA). Design: A retrospective cohort study for the Chinese population was performed to analyze the hearing test results of 406 patients with PS/NSEVA who had a SLC26A4 mutation and the relationship between inner ear imaging and audiology. Results: There was a significant difference in the mean hearing threshold in patients with biallelic mutations (M2), monoallelic mutations (M1), and nonallelic mutations (M0) and between patients with isolated vestibular aqueduct enlargement (IEVA) and patients with IEVA combined with Mondini malformation. There was no significant difference between patients with different gene mutation types or different sexes or between the width of the vestibular aqueduct (VA) and the mean hearing threshold. The degree of hearing loss was linearly correlated with age. Conclusions: We propose that the presence or absence of SLC26A4 mutation, whether combined with Mondini malformation and patient age, are essential factors affecting the degree of hearing loss in the Chinese population. However, the number and type of mutations, degree of VA expansion, and sex of the patients did not affect the clinical audiological phenotype.

Keywords: hearing loss, Pendred syndrome/nonsyndromic vestibular enlargement of aqueduct, radiologic, SLC26A4

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