Search results for: Miller Fisher syndrome

Authors: Mengnan Sun

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It is unclear about the association between air pollution and Tourette Syndrome (TS), although people have suspected that air pollution might trigger TS. TS is a type of neural system disease usually found among children. The number of TS patients has significantly increased in recent decades, suggesting an importance and urgency to examine the possible triggers or conditions that are associated with TS. In this study, the correlation between air pollution and three allergic diseases---asthma, allergic conjunctivitis (AC), and allergic rhinitis (AR)---is examined. Then, a correlation between these allergic diseases and TS is proved. In this way, this study establishes a positive correlation between air pollution and TS. Measures the public can take to help TS patients are also analyzed at the end of this article. The article hopes to raise people’s awareness to reduce air pollution for the good of TS patients or people with other disorders that are associated with air pollution.

Keywords: air pollution, allergic diseases, climate change, Tourette Syndrome

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Authors: Nashi Khan, Amina Khalid

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Aim: The purpose of this research was to find the psychiatric morbidity and level of sexual satisfaction among women with polycystic ovarian syndrome and their comparison with women with general medical conditions and to examine the correlation between psychiatric morbidity and sexual satisfaction among these women. Design: Cross sectional research design was used. Method: A total of 176 (M age = 30, SD = 5.83) women were recruited from both private and public sector hospitals in Pakistan. About 88 (50%) of the participants were diagnosed with polycystic ovarian syndrome (cases), whereas other 50% belonged to control group. Data were collected using semi structured interview. Sexual satisfaction scale for women (SSS-W) was administered to measure sexual satisfaction level and psychiatric morbidity was assessed by Symptom Checklist-Revised. Results: Results showed that participant’s depression and anxiety level had significant negative correlation with their sexual satisfaction level, whereas, anxiety and depression shared a significant positive correlation. There was a significant difference in the scores for sexual satisfaction, depression and anxiety for both cases and controls. These results suggested that women suffering from polycystic ovarian syndrome tend to be less sexually satisfied and experienced relatively more symptoms of depression and anxiety as compared to controls.

Keywords: level of sexual satisfaction, psychiatric morbidity, polycystic ovarian syndrome

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Authors: Rofida Gamal, Mostafa Mohammed, Mariam Adel, Marwa Gamal, Marwa kamal, Ayat Saber, Maha Mamdouh, Amira Emad, Mai Ramadan

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Lynch Syndrome is an inherited genetic condition associated with an increased risk of colorectal and other cancers. Detecting Lynch Syndrome in individuals is crucial for early intervention and preventive measures. This study proposes a computational pipeline for Lynch Syndrome detection by integrating alignment, variant calling, and annotation. The pipeline leverages popular tools such as FastQC, Trimmomatic, BWA, bcftools, and ANNOVAR to process the input FASTQ file, perform quality trimming, align reads to the reference genome, call variants, and annotate them. It is believed that the computational pipeline was applied to a dataset of Lynch Syndrome cases, and its performance was evaluated. It is believed that the quality check step ensured the integrity of the sequencing data, while the trimming process is thought to have removed low-quality bases and adaptors. In the alignment step, it is believed that the reads were accurately mapped to the reference genome, and the subsequent variant calling step is believed to have identified potential genetic variants. The annotation step is believed to have provided functional insights into the detected variants, including their effects on known Lynch Syndrome-associated genes. The results obtained from the pipeline revealed Lynch Syndrome-related positions in the genome, providing valuable information for further investigation and clinical decision-making. The pipeline's effectiveness was demonstrated through its ability to streamline the analysis workflow and identify potential genetic markers associated with Lynch Syndrome. It is believed that the computational pipeline presents a comprehensive and efficient approach to Lynch Syndrome detection, contributing to early diagnosis and intervention. The modularity and flexibility of the pipeline are believed to enable customization and adaptation to various datasets and research settings. Further optimization and validation are believed to be necessary to enhance performance and applicability across diverse populations.

Keywords: Lynch Syndrome, computational pipeline, alignment, variant calling, annotation, genetic markers

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Authors: Singh Baljinder, Sharma Navneet

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Foeniculum vulgare Miller is a biennial medicinal and aromatic plant belonging to the family Apiaceae (Umbelliferaceae). It is a hardy, perennial–umbelliferous herb with yellow flowers and feathery leaves. The aim is to study the control of blood glucose in alloxan induced diabetic mice.Method used for extraction was continuous hot percolation method in which Soxhlet apparatus was used.95%ethanol was used as solvent. Male albino mice weighing about 20-25 g obtained from Guru Angad Dev University of Veterinary Science, Ludhiana were used for the study. Diabetes was induced by a single i.p. injection of 125 mg/kg of alloxan monohydrate in sterile saline (11). After 48 h, animals with serum glucose level above 200 mg/dl (diabetic) were selected for the study. Blood samples from mice were collected by retro-orbital puncture (ROP) technique. Serum glucose levels were determined by glucose oxidase and peroxidase method. Single administration (single dose) of aqueous extract of fennel (25, 50, and 100 mg/kg, p.o.) in diabetic Swiss albino mice, showed reduction in serum glucose level after 45 min. Maximum reduction in serum glucose level was seen at doses of 100 mg/kg. Aqueous extract of fennel in all doses except 25 mg/kg did not cause any significant decrease in blood glucose. It may be said that the aqueous extract of fennel decreased the serum glucose level and improved glucose tolerance owing to the presence of aldehyde moiety. The aqueous extract of fennel has antihyperglycemic activity as it lowers serum glucose level in diabetic mice.

Keywords: Foeniculum vulgare Miller, antihyperglycemic, diabetic mice, Umbelliferaceae

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Authors: Faezah Shekh Abdullah, Mohd. Azizuddin Mohd. Yussof, Komathy Thiagarajan, Hasnoorina Husin, Noor Azreena Abd Aziz

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Polycystic ovary syndrome has been associated with multiple disorders such as endocrine disorder, metabolic syndrome, infertility, and endometrial cancer. Women with polycystic ovary syndrome (PCOS) are anticipated to develop three times more chances for endometrial cancer than women without PCOS. This study, therefore, was conducted to determine the association between polycystic ovary syndrome and endometrial cancer and to determine the cervical cytology features of PCOS. Patients attending the Subfertility Clinic of the National Population and Family Development Board were recruited and examined physically by medical practitioners. They were categorized into two groups; i) the PCOS group if they met Rotterdam Criteria 2004 and ii) the control group if they did not meet Rotterdam Criteria 2004. Cervical sampling was done on all patients via the Liquid-Based Cytology (LBC) method in the pre-and post-subfertility treatment. A total of 167 patients participated in the study, of which 79 belonged to the PCOS group and 88 to the control group. The findings showed no cervical and endometrial cancer cases in both groups. The Liquid-Based Cytology results in the PCOS group displayed more cases with cellular changes, i.e., benign inflammation, atrophic smear and Candida sp. infection. To conclude, no association was found between polycystic ovary syndrome and endometrial cancer. A more holistic study with a higher number of participants can further determine the association between endometrial cancer and PCOS. Furthermore, a longer duration between LBC pre- and post-subfertility treatment should be implied to observe changes in the cervical cells.

Keywords: endometrial cancer, liquid-based cytology, PCOS, polycystic ovary syndrome

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Authors: D. R. Apoorva

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Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome is a rare oculocutaneous disorder of genetic origin. This disorder results from mutations in the membrane-bound transcription factor protease site, two genes that impair cholesterol homeostasis, and the ability to cope with endoplasmic reticulum stress. We report a rare case of IFAP syndrome with an atypical presentation, and it was interesting to note that the child had patchy non-scarring alopecia over the scalp along with unilateral madarosis. To our best knowledge, this unique presentation has not been described earlier. The child presented with photophobia and unilateral ptosis. The child also had short stature and intellectual disability. Skin histopathology was nonspecific and consisted of dilated hair follicles with keratin plugs extending above the skin surface. This rare oculocutaneous disorder requires proper documentation so that identification of its variants may be possible in the future. Early recognition of atypical presentations can help in preventing cardiovascular complications, which remain the major cause of death.

Keywords: alopecia, photophobia, ichthyosis follicularis, IFAP syndrome

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Authors: Yanjun Chen, Chuanping Hu, Jie Shao, Lin Mei, Chongyang Zhang

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Traditional image classification is based on encoding scheme (e.g. Fisher Vector, Vector of Locally Aggregated Descriptor) with low-level image features (e.g. SIFT, HoG). Compared to these low-level local features, deep convolutional features obtained at the mid-level layer of convolutional neural networks (CNN) have richer information but lack of geometric invariance. For scene classification, there are scattered objects with different size, category, layout, number and so on. It is crucial to find the distinctive objects in scene as well as their co-occurrence relationship. In this paper, we propose a method to take advantage of both deep convolutional features and the traditional encoding scheme while taking object-centric and scene-centric information into consideration. First, to exploit the object-centric and scene-centric information, two CNNs that trained on ImageNet and Places dataset separately are used as the pre-trained models to extract deep convolutional features at multiple scales. This produces dense local activations. By analyzing the performance of different CNNs at multiple scales, it is found that each CNN works better in different scale ranges. A scale-wise CNN adaption is reasonable since objects in scene are at its own specific scale. Second, a fisher kernel is applied to aggregate a global representation at each scale and then to merge into a single vector by using a post-processing method called scale-wise normalization. The essence of Fisher Vector lies on the accumulation of the first and second order differences. Hence, the scale-wise normalization followed by average pooling would balance the influence of each scale since different amount of features are extracted. Third, the Fisher vector representation based on the deep convolutional features is followed by a linear Supported Vector Machine, which is a simple yet efficient way to classify the scene categories. Experimental results show that the scale-specific feature extraction and normalization with CNNs trained on object-centric and scene-centric datasets can boost the results from 74.03% up to 79.43% on MIT Indoor67 when only two scales are used (compared to results at single scale). The result is comparable to state-of-art performance which proves that the representation can be applied to other visual recognition tasks.

Keywords: deep convolutional features, Fisher Vector, multiple scales, scale-specific normalization

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Authors: Rajesh Kumar Suman, Ipseeta Ray Mohanty, Manjusha K. Borde, Ujjawala maheswari, Y. A. Deshmukh

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Background: Metabolic syndrome encompasses cluster of risk factors for cardiovascular disease which includes abdominal obesity, dyslipidemia, hypertension, and hyperglycemia. The incidence of metabolic syndrome is on the rise globally. Objective: The present study was designed to develop a unique animal model that will mimic the pathological features seen in a large pool of individuals with diabetes and metabolic syndrome; suitable for pharmacological screening of drugs beneficial in this condition. Material and Methods: A combination of high fat diet (HFD) and low dose of streptozotocin (STZ) at 30, 35 and 40 mg/kg was used to induce metabolic syndrome co-existing with diabetes mellitus in Wistar rats. Results: The 40 mg/kg STZ produced sustained hyperglycemia and the dose was thus selected for our study to induce diabetes mellitus. Rat fed HFD (HF-DC) group showed significant (p < 0.001) increase in body weight on 4th and 7th week as compared with NC (Normal Control) group rats. However, the increase in body weight of HF-DC group rats was not sustained at the end of 10th weeks. Various components of metabolic syndrome such as dyslipidemia {(Increased Triglyceride, total Cholesterol, LDL Cholesterol and decreased HDL Cholesterol)}, diabetes mellitus (Blood Glucose, HbA1c, Serum Insulin, C-peptide), hypertension {Systolic Blood pressure (p < 0.001)} were mimicked in the developed model of metabolic syndrome co existing with diabetes mellitus. In addition significant cardiac injury as indicated by CPK-MB levels, artherogenic index, hs-CRP. The decline in hepatic function {(p < 0.01) increase in the level of SGPT (U/L)} and renal function {(increase in creatinine levels (p < 0.01)} when compared to NC group rats. The histopathological assessment confirmed presence of edema, necrosis and inflammation in Heart, Pancreas, Liver and Kidney of HFD-DC group as compared to NC. Conclusion: The present study has developed a unique rodent model of metabolic syndrome; with diabetes as an essential component.

Keywords: diabetes, metabolic syndrome, high fat diet, streptozotocin, rats

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

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

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

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Authors: Riksa Parikrama, Bremmy Laksono, Dadang S. H. Effendi

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Disorder of sexual development (DSD) covers various conditions with a specific term such as Klinefelter syndrome, Turner syndrome, androgen insensitivity syndrome, and many more. The techniques to accurately diagnose those conditions has developed extensively. However, conventional karyotype and fluorescence in situ hybridization (FISH) are still widely used in many genetic laboratories as the basic method to determine chromosomal condition of DSD patients. Cytogenetic study was conducted on 36 DSD patients in Cell Culture and Cytogenetics Laboratory, Faculty of Medicine Universitas Padjadjaran, Indonesia. Most of the patients referred to the laboratory diagnosed with primary amenorrhea, hypospadias, micropenis, genitalia ambiguity, or congenital adrenal hyperplasia. The study used G-banding technique to acquire complete karyotype and followed by FISH as either confirmation or comparison method. Among 36 patients, G-banding karyotype and FISH results showed that two were diagnosed with 45, X (Turner syndrome); three with 47, XXY (Klinefelter syndrome); five with 46, XX DSD; 22 with 46, XY DSD; and four with 46,XY complete androgen insensitivity syndrome. G-banding karyotype analysis were paired with FISH using X and Y chromosome probe produced similar results. The present analysis showed that FISH is a reliable method to attain a rapid and accurate chromosome analysis result of DSD patients. Nevertheless, conventional karyotype technique is still vital if other condition appeared in DSD patients in order to get more detailed karyotype result which FISH method cannot achieve.

Keywords: chromosome, DSD, FISH, karyotype

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Authors: David J. Thomson, Joshua C. J. Chew

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Background: Syndrome of Irreversible Lithium-Effectuated Neurotoxicity (SILENT) is a rare complication of lithium toxicity that typically causes irreversible cerebellar dysfunction. These patients may require hemodialysis and extensive supports in the intensive care. Methods: A review was performed on the available literature of SILENT with a focus on current pathophysiological hypotheses and advances in treatment. Articles were restricted to the English language. Results: Although the exact mechanism is unclear, CNS demyelination, especially in the cerebellum, was seen on the brain biopsies of a proportion of patients. There is no definitive management of SILENT but instead current management is focused on primary and tertiary prevention – detection of those at risk, and rehabilitation post onset of neurological deficits. Conclusions: This review draws conclusions from a limited amount of available literature, most of which are isolated case reports. Greater awareness of SILENT and further investigation into the risk factors and pathogenesis are required so this serious and irreversible syndrome may be avoided.

Keywords: lithium toxicity, pathogenesis, SILENT, syndrome of irreversible lithium-effectuated neurotoxicity

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Authors: Etika Sukma Adiyanti, H. N. Nurul Huda Putu Ekapraja, Gugun Gunawan

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Global warming causes climate change and sea level rise. This is a threat for coastal regions, especially for coastal settlements with activities that are influenced by this natural phenomenon. Consequences are damage of houses, humid house environment, sustainability of the houses, obstructed economic activities and domestic works, disruption of sanitation facilities, lack of electricity, failure of transport system, psychological issues and other. Icons Tambak Lorok as 'Fisherman Village' is not something familiar to residents of the city of Semarang. Especially for the housewife who every day have to buy the ingredients high in protein and omega fish auction which is adjacent to the main street market in the village of Tambak Lorok. However, there are major problems that are being experienced by this small neighborhood. In fact, this issue includes seven infrastructure that should spoil the fishermen in activity with marine life. With this research, we will investigate water urbanism and climate change resiliency in Semarang, specifically the traditional fisher community of Tambak Lorok. We intend to find out how the local people in the fisher settlement Tambak Lorok deal with water urbanism, proverty and living with floods. So, we have a good solution for this problem, Floating Stage. We think that Tambak Lorok needs a new design for the common future. With this, One Building at A Time for Tambak Lorok, will be a good solution.

Keywords: fisher community, environment, climate change, settlement

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Authors: Neda Jamalimoghadam, Naval Heydari, Maliheh Abootalebi, Maryam Kasraeian, M. Emamghoreishi , Akbarzadeh Marzieh

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Background: The aim was to investigate the effect of aromatherapy using Citrus aurantium blossom essential oil on premenstrual syndrome in university students. Methods: In this double-blind clinical trial was controlled on 62 students from March 2016 to February 2017. The intervention with 0.5% of C. Aurantium blossom essential oil and control was inhalation of odorless sweet almond oil in the luteal phase of the menstrual cycle. The screening questionnaire (PSST) for PMSwas filled out before and also one and two months after the intervention. Results: Mean score of overall symptoms of PMS between the Bitter orange and control groups In the first (p < 0.003) and second months (p < 0.001) of the intervention was significant. Besides, decreased the mean score of psychological symptoms in the intervention group (p < 0.001), but on physical symptoms and social function were not significant (p > 0.05). Conclusion: The aromatherapy with Citrus aurantium blossom improved the symptoms of premenstrual syndrome.

Keywords: aromatherapy, Citrus Aurantium, premenstrual syndrome, oil, students

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Authors: Sandip Tambare, Revati Ghadge

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Alcohol withdrawal syndrome continue to be concerning health issue worldwide in alcoholics. Many current option for treating alcohol withdrawal signs are habit forming causing dependency of sedatives. The divine science of Ayurveda recommends Nasya for improvement of alcohol withdrawal signs. As per the latest reports 1/3 of the Indian population is using alcohol in an unhealthy manner, the complication being wide and varied among which, the Alcohol Withdrawal Syndrome is the dominant one. The presentation varies from mild sleep loss or anxiety to delirium. Ayurveda has given utmost in the context of Madatyaya(Alcoholism). Various protocols based on the identification of the status of tridoshas are explained which includes sodhana, samana and satwavachaya chikitsa. Various medications are being used, with appreciated effects in the clinical practice. As per reports, the panchakarma procedure nasya seems highly effective, in managing of the alcohol withdrawal syndrome. Nasya with Ksheerabala Taila is given for 7 days in the condition of Alcohol Withdrawal syndrome and it was the non Randomized trial with 30 subjects satisfying the DSM V criteria for alcohol withdrawl and the assessment was done using the Clinical Institute Withdrawal Assessment for Alcohol Scale revised (CIWA-Ar). Conclusion: Among the symptoms which were studied after the interventions, it was found that there was high significant response in almost all the symptoms in the given subjects. The eternal science of Ayurveda is able to answer the existing problem of alcohol and its abuse in the society.

Keywords: nasya, alcohol withdrawal, madatyaya, ksheerabala taila

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Authors: Rabab A. El Wahsh, Hatem M. Marey, Maha Yousif, Asmaa M. Ibrahim

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Background: OSA and COPD are associated with microvascular changes. Retinal microvasculature can be directly and non-invasively examined. Aim: to evaluate retinal vascular tortuosity in patients with COPD, OSA, and overlap syndrome. Subjects and method: Sixty subjects were included; 15 OSA patients, 15 COPD patients, 15 COPD-OSA overlap patients, and 15 matched controls. They underwent digital retinal photography, polysomnography, arterial blood gases, spirometry, ESS, and stop-bang questionnaires. Results: Tortuosity of most retinal vessels was higher in all patient groups compared to the control group; tortuosity was more marked in overlap syndrome. There was a negative correlation between tortuosity of retinal vessels and PO2, O2 saturation, and minimum O2 desaturation, and a positive correlation with PCO2, AHI, O2 desaturation index, BMI and smoking index. Conclusion: Retinal vascular tortuosity occurs in OSA, COPD and overlap syndrome. Retinal vascular tortuosity is correlated with arterial blood gases parameters, polysomnographic findings, smoking index and BMI.

Keywords: OSA, COPD, overlap syndrome, retinal vascular tortuosity

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Authors: Marzieh Sayyad, Mohsen Salesi

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Metabolic syndrome (MetS), a collection of cardiometabolic risk factors, is linked to the development of cardiovascular disease (CVD) and diabetes. The prevalence of MetS is on the rise with more women affected than men. The goal of this study was to compare the effects of resistance and aerobic exercise training on metabolic syndrome components in non-athlete, middle-aged woman. 51 non-athlete overweight female participated voluntarily in this study. Participants were divided randomly into three groups including resistance, aerobic and control group (number of each group 17). 24 hours before the beginning of training program, the blood sample was taken in fasting state. The two training groups participated in sport activities for eight weeks, three times a week duration 60-90 minutes. Two days following the end of the 8th week, all the measurements were performed similar to the pretest phase. The data was analyzed using one-way analysis of variance. The results showed that aerobic exercise training significantly decreased weight (p=.05), triglyceride (p<0.01) and systolic blood pressure (p<0.02) and HDL-c (p<0.01) was significantly increased. Also in resistance exercise training group TG decreased significantly (p<0.01) and HDL-c (p<0.05) was significantly increased. This study demonstrated that a regular physical activity program improved several metabolic and physiological parameters in healthy, previously sedentary subjects with the metabolic syndrome. In conclusion, it seems that this type of training can be efficient, safe and inexpensive way in order to reduce and prevent metabolic syndrome.

Keywords: aerobic exercise, metabolic syndrome, overweight sedentary female, resistance exercise

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Authors: Kazem Shakouri, Alireza Pishgahi, Homayoun Sadeghi-bBazargani, Shahla Dareshiri

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Introduction: Carpal Tunnel Syndrome has numerous nonsurgical treatments including splint, physical therapy and corticosteroid injections. Aim: The purpose of this study was to evaluate the effectiveness of an ultrasound guided treatment procedure, for individuals with severe carpal tunnel syndrome. Materials and Method: 20 patients with an electrodiagnostic evidence of severe carpal tunnel syndrome were treated by an office-based ultrasound guided procedure (combination of percutaneous needle release of carpal tunnel and corticosteroid injection). Electrodiagnostic (nerve conduction study), clinical (Boston Carpal Tunnel Questionnaire, grip strength) and ultrasonic (median nerve and carpal tunnel cross-sectional area) measurements were recorded at baseline and one month after intervention. Results: Our preliminary data analysis showed that in one month follow up, patients had a significantly smaller cross-sectional area of the median nerve compared to pretreatment values (mean difference 0.06; 95%CI: 0.02-0.1; p < 0.001). In addition, patients had significantly less functional impairment (mean difference 35; 95% CI:28.7-43.4 ; p < 0.001), and an improved hand grip strength in one month follow up (mean difference 5.4; 95%CI: 3.1-7.8; p < 0.001;). There were no significant complications. Conclusion: Patients with severe carpal tunnel syndrome, who are candidates for surgical intervention, can consider office-based ultrasound guided needle release of carpal tunnel as an alternative safe treatment.

Keywords: Carpal Tunnel Syndrome, needle release, pain, ultrasound

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Authors: Behnaz Sohani, Ifeoluwa Joshua Adigun, Amir Rahmani, Khaled Goher

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This paper provides initial results on the efficacy of the designed ergonomic-oriented neck support to mitigate and alleviate tension neck syndrome musculoskeletal disorder. This is done using both simulations and measurements. Tension Neck Syndrome Musculoskeletal Disorder (TNS MSD) causes discomfort in the muscles around the neck and shoulder. TNS MSD is one of the leading causes of early retirement. This research focuses on the design of an adaptive neck supporter by integrating a soft actuator massager to help deliver a soothing massage. The massager and adaptive neck supporter prototype were validated by finite element analysis prior to fabrication to envisage the feasibility of the design concept. Then a prototype for the massager was fabricated and tested for concept validation. Future work will be focused on fabricating the full-scale prototype and upgrading and optimizing the design concept for the adaptive neck supporter.

Keywords: adaptive neck supporter, tension neck syndrome, musculoskeletal disorder, soft actuator massager, soft robotics

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Authors: Esther Moraleda Sepúlveda, Soraya Delgado Matute, Paula Salido Escudero, Raquel Mimoso García, M Cristina Alcón Lancho

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Although there is some consensus when it comes to establishing the lexicon as one of the strengths of language in people with Down Syndrome (DS), little is known about its evolution throughout development and changes based on age. The objective of this study was to find out if there are differences in receptive vocabulary between adolescence and adulthood. In this research, 30 people with DS between 11 and 40 years old, divided into two age ranges (11-18; 19 - 30) and matched in mental age, were evaluated through the Peabody Vocabulary Test. The results show significant differences between both groups in favor of the group with the oldest chronological age and a direct correlation between chronological age and receptive vocabulary development, regardless of mental age. These data support the natural evolution of the passive lexicon in people with DS.

Keywords: down syndrome, language, receptive vocabulary, adolescents, adults

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Authors: Ayca Bilginoglu, Belma Turan

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Metabolic syndrome, is associated impaired blood glucose level, insulin resistance, dyslipidemia caused by abdominal obesity. Also, it is related with cardiovascular risk accumulation and cardiomyopathy. The hypothesis of this study was to examine the effect of thiazolidinediones such as pioglitazone which is widely used insulin-sensitizing agents that improve glycemic control, on intracellular Na+ homeostasis in metabolic syndrome-induced cardiomyopathy in male rats. Male Wistar-Albino rats were randomly divided into three groups, namely control (Con, n=7), metabolic syndrome (MetS, n=7) and pioglitazone treated metabolic syndrome group (MetS+PGZ, n=7). Metabolic syndrome was induced by providing drinking water that was 32% sucrose, for 18 weeks. All of the animals were exposed to a 12 h light – 12 h dark cycle. Abdominal obesity and glucose intolerance had measured as a marker of metabolic syndrome. Intracellular Na+ ([Na+]i) is an important modulator of excitation–contraction coupling in heart. [Na+]i at rest and [Na+]i during pacing with electrical field stimulation in 0.2 Hz, 0.8 Hz, 2.0 Hz stimulation frequency were recorded in cardiomyocytes. Also, Na+ channel current (INa) density and I-V curve were measured to understand [Na+]i homeostasis. In results, high sucrose intake, as well as the normal daily diet, significantly increased body mass and blood glucose level of the rats in the metabolic syndrome group as compared with the non-treated control group. In MetS+PZG group, the blood glucose level and body inclined to decrease to the Con group. There was a decrease in INa density and there was a shift both activation and inactivation curve of INa. Pioglitazone reversed the shift to the control side. Basal [Na+]i either MetS and Con group were not significantly different, but there was a significantly increase in [Na+]i in stimulated cardiomyocytes in MetS group. Furthermore, pioglitazone had not effect on basal [Na+]i but it reversed the increase in [Na+]i in stimulated cardiomyocytes to the that of Con group. Results of the present study suggest that pioglitazone has a significant effect on the Na+ homeostasis in the metabolic syndrome induced cardiomyopathy in rats. All animal procedures and experiments were approved by the Animal Ethics Committee of Ankara University Faculty of Medicine (2015-2-37).

Keywords: insulin resistance, intracellular sodium, metabolic syndrome, sodium current

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Authors: Maha Salah, Hanaa Hashem, Mahmoud M. Alsagheir, Mohammed Salah

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Acute respiratory distress syndrome (ARDS) represents a complex clinical syndrome and carries a high risk for mortality. The severity of the clinical course, the uncertainty of the outcome, and the reliance on the full spectrum of critical care resources for treatment mean that the entire health care team is challenged. Researchers and clinicians have investigated the nature of the pathological process and explored treatment options with the goal of improving outcome. Through this application of research to practice, we know that some previous strategies have been ineffective, and innovations in mechanical ventilation, sedation, nutrition, and pharmacological intervention remain important research initiatives. Developed Clinical pathway is multidisciplinary plans of best clinical practice for this specified groups of patients that aid in the coordination and delivery of high quality care. They are a documented sequence of clinical interventions that help a patient to move, progressively through a clinical experience to a desired outcome. Although there is a lot of heterogeneity in patients with ARDS, this suggested developed clinical pathway with alternatives was built depended on a lot of researches and evidence based medicine and nursing practices which may be helping these patients to improve outcomes, quality of life and decrease mortality.

Keywords: acute respiratory distress syndrome (ARDS), clinical pathway, clinical syndrome

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Authors: Jennifer M. Glennon, Hana D'Souza, Luke Mason, Annette Karmiloff-Smith, Michael S. C. Thomas

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Genetic syndrome groups that feature high rates of autism comorbidity, like Down syndrome (DS) and fragile X syndrome (FXS), have been presented as useful models for understanding risk and protective factors involved in the emergence of autistic traits. Yet despite reaching clinical thresholds, these ‘syndromic’ forms of autism appear to differ in important ways from the idiopathic or ‘non-syndromic’ autism phenotype. To uncover the true nature of these comorbidities, it is necessary to extend definitions of autism to include the cognitive characteristics of the disorder and to then apply this broadened conceptualisation to the study of syndromic autism profiles. The current study employs a variety of well-established eye-tracking paradigms to assess visual attentional performance in children with DS and FXS who reach thresholds for autism on the Social Communication Questionnaire. It investigates whether autism profiles in these children are accompanied by visual orienting difficulties (‘sticky attention’), decreased social attention, and enhanced visual search performance, all of which are characteristic of the idiopathic autism phenotype. Data is collected from children with DS and FXS aged between 6 and 10 years, in addition to two control groups matched on age and intellectual ability (i.e., children with idiopathic autism and neurotypical controls). Cross-sectional developmental trajectory analyses are conducted to enable visuo-attentional profile comparisons. Significant differences in the visuo-attentional processes underpinning autism presentations in children with FXS and DS are hypothesised, supporting notions of syndrome specificity. The study provides insight into the complex heterogeneity associated with syndromic autism presentations and autism per se, with clinical implications for the utility of autism intervention programmes in DS and FXS populations.

Keywords: autism, down syndrome, fragile X syndrome, eye tracking

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Authors: Farah Al Zaabi, Sarah Amrani

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Complex regional pain syndrome (CRPS) is a chronic pain condition that develops in an extremity following a fracture, soft tissue injury, or surgery. It is a neuropathic pain disorder that is accompanied by the characteristic skin manifestations that are needed for the diagnosis. We report the case of a 30 year old male, who has findings consistent with CRPS and has been followed for over two years by multiple specialties within the healthcare system without obtaining a diagnosis. The symptoms he presented with were treated based on the specialty he was seeing, rather than unified and recognized as a single disease process. Our case highlights the complexity of chronic pain, which can sometimes present with skin manifestations, and the importance of involving a pain specialist early for both the medical and physical recovery of CRPS patients.

Keywords: complex regional pain syndrome, chronic pain, skin changes of CRPS, dermatological manifestions of CRPS

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Authors: Lucky Farha, Martha L. Hall

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The current adaptive clothing brands are limited in numbers and specific categories. This study explores clothing challenges for children with Down syndrome and factors that influence their perception of adaptive clothing brands. Another aim of this study was to explore brands' challenges in the adaptive business and factors that influence their perceptions towards the adaptive market. In order to determine the market barriers affecting adaptive target market needs, the researcher applied Technology Acceptance Model. After interviewing and surveying parents/caregivers having children with Down syndrome and current adaptive brands, the results found education as the significant gap in the adaptive clothing market yet to be overcome. Based on the finding, several recommendations were suggested to improve the current barriers in the adaptive clothing market.

Keywords: adaptive fashion, disability, functional clothing, clothing needs assessment, down syndrome, clothing challenge

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Authors: S. Surapa Raju

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In Andhra Pradesh, the symptoms of climate variations in coastal villages can be observed from various studies. The Andhra Pradesh coast is known its frequent tropical cyclones and associated floods and tidal surges causing loss of life and property in the region. In the last decade alone, the state experienced 18 devastating storms causing huge loss to coastal people. The year 2007 was the fourth warmest year on record since 1901 and 2009 witnessed the heat wave conditions prevailing over the coastal Andhra Pradesh. With regarding to sea level rise (SLR), 43 percent of the coastal areas considered to be at high risk. The main objectives of the study are: to know the perceptions of fisher people on climate variations and to find out the awareness of the fisher people on climate variations and its effects at village and on fishing households. Altogether 150 households were chosen purposively for this study and collected information from the households based on semi-structured schedule. The present field-based study observed that most of the fisher people are experienced about the changes in climate variations in their villages. The first generation fisher people expressed that the at least 1/2km of sea erosion taken place from the last 20 years and most of them displaced. With regard to fishing activities, first generation fisher people revealed that 20 years back they were fishing in near-shore areas, but now availability of near shore is decreased at a large extent. The present study observed the lot of variations in growth of species in marine districts of Andhra Pradesh from the year 2005-2010. Some species like Silver pomfret, Sole (flat fish), Chriocentrus, Thrisocies, Stakes, Rays etc. are in decaling. The results of the study indicate that huge variation observed in growth rates of fish species. Small and traditional fishers have drastically effected in El NiNo years than the normal years as they have not own suitable equipment such as crafts and nets. The study discovered that many changes taken place in the fishing activities and they are: go for long distance for fishing which increases the cost of fishing operations; decrease in fish catches. Need to take up in-depth studies in the marine villages and tackle the situation by creating more awareness about the negative effects of climate variations among fishing households. Suitable fish craft technology is to be supplied and create more employment opportunities for the fishers in other than fishery.

Keywords: climate, Andhra Pradesh, El nino years, India

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Authors: Ruolan Zhou

Abstract:

Trisomy of human chromosome 21 is the primary cause of Down Syndrome (DS), and this genetic disease has significantly burdened families and countries, causing great controversy. To address this problem, the research takes an approach in exploring the relationship between genetic abnormality and this disease's symptoms, adopting several techniques, including data analysis and enrichment analysis. It also explores open-source websites, such as NCBI, DAVID, SOURCE, STRING, as well as UCSC, to complement its result. This research has analyzed the variety of genes on human chromosome 21 with simple coding, and by using analysis, it has specified the protein-coding genes, their function, and their location. By using enrichment analysis, this paper has found the abundance of keratin production-related coding-proteins on human chromosome 21. By adopting past researches, this research has attempted to disclose the relationship between trisomy of human chromosome 21 and keratin production abnormality, which might be the reason for common diseases in patients with Down Syndrome. At last, by addressing the advantage and insufficiency of this research, the discussion has provided specific directions for future research.

Keywords: Down Syndrome, protein production, genome, enrichment analysis

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Authors: A. Bruce Janati, Muhammad Umair Khan, Naif Alghassab, Ibrahim Alzeir, Assem Mahmoud, M. Sammour

Abstract:

Rationale: Lennox-Gastaut syndrome(LGS) is an electro-clinical syndrome composed of the triad of mental retardation, multiple seizure types, and the characteristic generalized slow spike-wave complexes in the EEG. In this article, we report on two patients with LGS whose brain MRI showed dysgenesis of corpus callosum(CC). We review the literature and stress the role of CC in the genesis of secondary bilateral synchrony(SBS). Method: This was a clinical study conducted at King Khalid Hospital. Results: The EEG was consistent with LGS in patient 1 and unilateral slow spike-wave complexes in patient 2. The MRI showed hypoplasia of the splenium of CC in patient 1, and global hypoplasia of CC combined with Joubert syndrome in patient 2. Conclusion: Based on the data, we proffer the following hypotheses: 1-Hypoplasia of CC interferes with functional integrity of this structure. 2-The genu of CC plays a pivotal role in the genesis of secondary bilateral synchrony. 3-Electrodecremental seizures in LGS emanate from pacemakers generated in the brain stem, in particular the mesencephalon projecting abnormal signals to the cortex via thalamic nuclei. 4-Unilateral slow spike-wave complexes in the context of mental retardation and multiple seizure types may represent a variant of LGS, justifying neuroimaging studies.

Keywords: EEG, Lennox-Gastaut syndrome, corpus callosum , MRI

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Authors: Nazmul Haque, Syeda Tasnuva Maria

Abstract:

Sheehan's Syndrome (SS), also known as postpartum hypopituitarism, is a rare but potentially serious condition resulting from ischemic necrosis of the pituitary gland, often occurring during or after childbirth. This syndrome is characterized by hypopituitarism, leading to deficiencies in various hormones produced by the pituitary gland. The primary cause is typically severe postpartum hemorrhage, leading to inadequate blood supply and subsequent necrosis of the pituitary tissue. This chronic hypopituitarism sometimes plays the role of premature atherosclerosis, which may lead to cardiovascular disease. This abstract provides a comprehensive overview of Sheehan's Syndrome with ischaemic heart disease, encompassing its pathophysiology, clinical manifestations, and current management strategies. The disorder presents a wide spectrum of symptoms, including chest pain, fatigue, amenorrhea, lactation failure, hypothyroidism, and adrenal insufficiency. Timely diagnosis is crucial, as delayed recognition can lead to complications and long-term health consequences. We herein report a patient complaining of chronic fatigue symptoms, aggressiveness, chest pain, and breathlessness with repeated LOC that were diagnosed with SS with IHD. The patient was treated with antiplatelet, antianginal, steroids, and hormone replacement with marked improvement in his overall condition.

Keywords: ischaemic heart disease, Sheehan's syndrome, post-partum haemorrhage, pituitary gland

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Authors: Ahmed M. F. El Shiwi

Abstract:

Background: Low back pain affects about 60% to 90% of the working-age population in modern industrial society. Myofascial pain syndrome is a condition characterized by muscles shortening with increased tone and associated with trigger points that aggravated with the activity of daily living. Purpose: To examine the effects of magnetic field therapy in patients with lower back myofascial pain syndrome. Methods: Thirty patients were assigned randomly into two groups. Subjects in the experimental group (n=15) with main age of 36.73 (2.52) received traditional physical therapy program (Infrared radiation, ultrasonic, stretching and strengthening exercises for back muscles) as well as magnetic field, and control group (n=15) with main age of 37.27 (2.52) received traditional physical therapy only. The following parameters including pain severity, functional disability and lumbar range of motion (flexion, extension, right side bending, and left side bending) were measured before and after four weeks of treatment. Results: The results showed significant improvement in all parameters in the experimental group compared with those in the control group. Interpretation/Conclusion: By the present date, it is possible to conclude that a magnetic field is effective as a method of treatment for lower back myofascial pain syndrome patients with the parameters used in the present study.

Keywords: magnetic field, lower back pain, myofascial pain syndrome, biological systems engineering

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Authors: Vladyslav Povoroznyuk, Larysa Martynyuk, Iryna Syzonenko, Liliya Martynyuk

Abstract:

Medical, social, and economic relevance of osteoporosis is caused by reducing quality of life, increasing disability and mortality of the patients as a result of fractures due to the low-energy trauma. This study is aimed to examine the associations of metabolic syndrome components, bone mineral density (BMD) and trabecular bone score (TBS) in menopausal women with non-vertebral fractures. 1161 menopausal women aged 50-79 year-old were examined and divided into three groups: A included 419 women with increased body weight (BMI - 25.0-29.9 kg/m²), B – 442 females with obesity (BMI >29.9 kg/m²)i and C – 300 women with metabolic syndrome (diagnosis according to IDF criteria, 2005). BMD of lumbar spine (L1-L4), femoral neck, total body and forearm was investigated with usage of dual-energy X-ray absorptiometry. The bone quality indexes were measured according to Med-Imaps installation. All analyses were performed using Statistical Package 6.0. BMD of lumbar spine (L1-L4), femoral neck, total body, and ultradistal radius was significant higher in women with obesity and metabolic syndrome compared to the pre-obese ones (p<0.001). TBS was significantly higher in women with increased body weight compared to obese and metabolic syndrome patients. Analysis showed significant positive correlation between waist circumference, triglycerides level and BMD of lumbar spine and femur. Significant negative association between serum HDL level and BMD of investigated sites was established. The TBS (L1-L4) indexes positively correlated with HDL (high-density lipoprotein) level. Despite the fact that BMD indexes were better in women with metabolic syndrome, the frequency of non-vertebral fractures was significantly higher in this group of patients.

Keywords: bone mineral density, trabecular bone score, metabolic syndrome, fracture

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