Search results for: post facial syndrome

Authors: Neena Kanojia, R. K. Kanojia

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Background: Osteoarthritis OA of the knee is one of the leading causes of disability characterized by degeneration of hyaline cartilage combined with reparative processes. Its strong association with metabolic syndrome is postulated to be due to both mechanical and biochemical factors. Our study aims to study differential effect of metabolic risk factors on cartilage degeneration and regeneration at biomarker level. Design: After screening 281 patients presenting with knee pain, 41 patients who met the selection criteria were included and were divided into metabolic MetS OA and non-metabolic Non-MetS OA phenotypes using National Cholesterol Education Programme-Adult Treatment Panel-III NCEP ATP III criteria for metabolic syndrome. Serum Cartilage Oligomeric Matrix Protein COMP and Procollagen type IIA N terminal Propeptide PIIANP levels were used as tools to assess cartilage degeneration and regeneration, respectively. Results: 22 among 41 patients 53.66% had metabolic syndrome. Covariates like age, gender, Kellgren Lawrence KL grades were comparable in both groups. MetS OA group showed significant increase in serum COMP levels (p 0.03 with no significant effect on serum PIIANP levels (p 0.46. Hypertriglyceridemia showed independent association with both cartilage anabolism (p 0.03 and catabolism (p 0.03. Conclusion: Metabolic syndrome, though has no effect on cartilage regeneration tends to shift cartilage homeostasis towards degeneration with hypertriglyceridemia showing significant independent effect on cartilage metabolism.

Keywords: metabolic, syndrome, cartilage, degernation

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Authors: Anna Amato

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Every child needs communication. If spoken language is not or not fully available due to congenital or acquired limitations, those affected need appropriate ways. These can be found in many possibilities of Augmentative and Alternative Communications (AAC). In the communication promotion of severely impaired children, who can use their own body communication forms only to a limited extent for the differentiated understanding, computers with eye control play an essential role. It takes some time to understand the individual forms of communication of the child. Children who depend on the AAC need competent support to learn to communicate in a motivated way in their everyday life. The aim of the present parents' survey (n = 4), which was evaluated descriptively, is to demonstrate the development of communicative abilities as well as the motivation to use complex communication aids with eye control by patients with atypical Rett Syndrome. An increase in communication skills, well-being, self-reliance, and self-esteem, an improvement in social participation, as well as a reduction in anger and screaming events, were noted. The complex visual communication tools were available daily for 3 out of 4 patients with atypical Rett Syndrome. It raises research questions regarding speech understanding and the ability to drive eye control technology in a larger group of atypical Rett Syndrome patients.

Keywords: augmentative and alternative communications, AAC, atypical Rett-syndrome, children, development

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Authors: Sadhana Deshmukh

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Objective: Men represent only a fraction of the medical aesthetic practice. They are increasingly becoming more cosmetically-inclined. The primary objective is to harmonize facial proportion by prioritizing and focusing on forehead nose, cheek and chin complex. Introduction: Despite tremendous variability, diverse population of the Indian subcontinent, the male skull is unique in its overall larger size, and shape. Men tend to have a large forehead with prominent supraorbital ridges, wide glabella, square orbit, and a prominent protruding mandible. Men have increased skeletal muscle mass, with less facial subcutaneous fat. Facial aesthetics is evolving rapidly. Commonly published canons of facial proportions usually represent feminine standards and are not applicable to males. Strict adherence to these norms is therefore not necessary to obtain satisfying results in male patients. Materials and Methods: Male patients age group 30-60 years have been enrolled. Botulinum toxin and hyaluronic acid fillers were used to update consensus recommendations for facial rejuvenation using these two types of products alone and in combination. Results: There are specific recommendations by facial area, focusing on relaxing musculature, restoring volume, recontouring using toxin and dermal fillers alone and in combination. For upper face, though botulinum toxin remains the cornerstone of treatment, temples and forehead fillers are recommended for optimal results. In Mid face, these fillers are placed more laterally to maintain the masculine look. Botulinum toxin and fillers in combination can improve outcomes in the lower face. Chin augmentation remains the center point for lower face. Conclusions: Males are more likely to have shorter doctor visits, less likely to ask questions, have a lower attention to bodily changes. The physician must patiently gauge male patients’ aging and cosmetic goals. Clinicians can also benefit from ongoing guidance on products, tailoring treatments, treating multiple facial areas, and using combinations of products. An appreciation that rejuvenation is 3-dimensional process involving muscle control, volume restoration and recontouring helps.

Keywords: male aesthetics, botulinum toxin, hyaluronic acid dermal fillers, Asian patients

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

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Osteoporosis is one of the important problems in postmenopausal women due to an increased risk of sudden and unexpected fractures. This study is aimed to determine the connection between bone mineral density (BMD) and trabecular bone score (TBS) in Ukrainian women suffering from metabolic syndrome. Participating in the study, 566 menopausal women aged 50-79 year-old were examined and divided into two groups: Group A included 336 women with no obesity (BMI ≤ 29.9 kg/m²), and Group B – 230 women with metabolic syndrome (diagnosis according to IDF criteria, 2005). Dual-energy X-ray absorptiometry was used for measuring of lumbar spine (L1-L4), femoral neck, total body and forearm BMD and bone quality indexes (last according to Med-Imaps installation). Data were analyzed using Statistical Package 6.0. A significant increase of lumbar spine (L1-L4), femoral neck, total body and ultradistal radius BMD was found in women with metabolic syndrome compared to those without obesity (p < 0.001) both in their totality and in groups of 50-59 years, 60-69 years, and 70-79 years. TBS was significantly higher in non-obese women compared to metabolic syndrome patients of 50-59 years and in the general sample (p < 0.05). Analysis showed significant positive correlation between body mass index (BMI) and BMD at all levels. Significant negative correlation between BMI and TBS (L1-L4) was established. Despite the fact that BMD indexes were significantly higher in women with metabolic syndrome, the frequency of vertebral and non-vertebral fractures did not differ significantly in the groups of patients.

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

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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: 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: 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: Catia Correia Caeiro, Kun Guo, Daniel Mills

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Despite its growing interest, emotions are still an understudied cognitive process and their origins are currently the focus of much debate among the scientific community. The use of facial expressions as traditional hallmarks of discrete and holistic emotions created a circular reasoning due to a priori assumptions of meaning and its associated appearance-biases. Ekman and colleagues solved this problem and laid the foundations for the quantitative and systematic study of facial expressions in humans by developing an anatomically-based system (independent from meaning) to measure facial behaviour, the Facial Action Coding System (FACS). One way of investigating emotion cognition processes is by applying comparative psychology methodologies and looking at either closely-related species (e.g. chimpanzees) or phylogenetically distant species sharing similar present adaptation problems (analogy). In this study, the domestic dog was used as a comparative animal model to look at facial expressions in social interactions in parallel with human facial expressions. The orofacial musculature seems to be relatively well conserved across mammal species and the same holds true for the domestic dog. Furthermore, the dog is unique in having shared the same social environment as humans for more than 10,000 years, facing similar challenges and acquiring a unique set of socio-cognitive skills in the process. In this study, the spontaneous facial movements of humans and dogs were compared when interacting with hetero- and conspecifics as well as in solitary contexts. In total, 200 participants were examined with FACS and DogFACS (The Dog Facial Action Coding System): coding tools across four different emotionally-driven contexts: a) Happiness (play and reunion), b) anticipation (of positive reward), c) fear (object or situation triggered), and d) frustration (negation of a resource). A neutral control was added for both species. All four contexts are commonly encountered by humans and dogs, are comparable between species and seem to give rise to emotions from homologous brain systems. The videos used in the study were extracted from public databases (e.g. Youtube) or published scientific databases (e.g. AM-FED). The results obtained allowed us to delineate clear similarities and differences on the flexibility of the facial musculature in the two species. More importantly, they shed light on what common facial movements are a product of the emotion linked contexts (the ones appearing in both species) and which are characteristic of the species, revealing an important clue for the debate on the origin of emotions. Additionally, we were able to examine movements that might have emerged for interspecific communication. Finally, our results are discussed from an evolutionary perspective adding to the recent line of work that supports an ancient shared origin of emotions in a mammal ancestor and defining emotions as mechanisms with a clear adaptive purpose essential on numerous situations, ranging from maintenance of social bonds to fitness and survival modulators.

Keywords: comparative and evolutionary psychology, emotion, facial expressions, FACS

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Authors: McClain Thiel

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Object detection and localization has historically required two or more sensors due to the loss of information from 3D to 2D space, however, most surveillance systems currently in use in the real world only have one sensor per location. Generally, this consists of a single low-resolution camera positioned above the area under observation (mall, jewelry store, traffic camera). This is not sufficient for robust 3D tracking for applications such as security or more recent relevance, contract tracing. This paper proposes a lightweight system for 3D person tracking that requires no additional hardware, based on compressed object detection convolutional-nets, facial landmark detection, and projective geometry. This approach involves classifying the target into a demographic category and then making assumptions about the relative locations of facial landmarks from the demographic information, and from there using simple projective geometry and known constants to find the target's location in 3D space. Preliminary testing, although severely lacking, suggests reasonable success in 3D tracking under ideal conditions.

Keywords: monocular distancing, computer vision, facial analysis, 3D localization

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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: Samuel Mwangi, Josephine K. Mule

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Access control as a security technique regulates who or what can access resources. It is a fundamental concept in security that minimizes risks to the institutions that use access control. Regulating access to institutions of higher learning is key to ensure only authorized personnel and students are allowed into the institutions. The use of biometrics has been criticized due to the setup and maintenance costs, hygiene concerns, and trepidations regarding data privacy, among other apprehensions. Facial recognition is arguably a fast and accurate way of validating identity in order to guard protected areas. It guarantees that only authorized individuals gain access to secure locations while requiring far less personal information whilst providing an additional layer of security beyond keys, fobs, or identity cards. This exploratory study sought to investigate the use of facial recognition in controlling access in institutions of higher learning in Kenya. The sample population was drawn from both private and public higher learning institutions. The data is based on responses from staff and students. Questionnaires were used for data collection and follow up interviews conducted to understand responses from the questionnaires. 80% of the sampled population indicated that there were many security breaches by unauthorized people, with some resulting in terror attacks. These security breaches were attributed to stolen identity cases, where staff or student identity cards were stolen and used by criminals to access the institutions. These unauthorized accesses have resulted in losses to the institutions, including reputational damages. The findings indicate that security breaches are a major problem in institutions of higher learning in Kenya. Consequently, access control would be beneficial if employed to curb security breaches. We suggest the use of facial recognition technology, given its uniqueness in identifying users and its non-repudiation capabilities.

Keywords: facial recognition, access control, technology, learning

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Authors: Arman Kishan, Mark Haft, Steve Li, Duc Nguyen, Dawn Laporte

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Objective: Patients with Type 2 diabetes (T2DM) often face higher postoperative complication rates. Limited data exist on outcomes in T2DM patients undergoing carpal tunnel release (CTR). This study aims to compare complication rates between endoscopic CTR (ECTR) and open CTR (OCTR) in patients with T2DM. Methods: This was a retrospective cohort study using the TriNetX database of 56741 patients with T2DM undergoing ECTR (N= 14,949) or OCTR (N= 41,792). Demographic data, medical comorbidities, and complication rates were analyzed. We used multivariable analysis to identify differences in postoperative complication rates between the two treatment methods in patients with T2DM. Results: Patients with T2DM undergoing ECTR had a significantly lower incidence of 90-day wound infection (p < 0.001), 90-day wound dehiscence (p < 0.001), and nerve injury (p < 0.001) when compared to patients who underwent OCTR. After matching, there was a significantly higher number of T2DM patients undergoing ECTR who had peripheral vascular disease (p = 0.045) and hypertension (p = 0.020) when compared to the OCTR group. These patients also had a lower incidence of fluid and electrolyte disorders (p = 0.002) and chronic blood loss anemia (p = 0.025). Conclusion: ECTR presents a superior choice for T2DM patients undergoing CTR, yielding significantly lower rates of wound infection, wound dehiscence, and nerve injury within 90 days post-surgery—reducing the risk by 31%, 48%, and 59%, respectively. These findings support the adoption of ECTR as the preferred method in this patient population, potentially leading to improved postoperative outcomes.

Keywords: endoscopic treatment of carpal tunnel syndrome, open treatment of carpal tunnel syndrome, carpal tunnel syndrome, postoperative complications in patients with diabetes mellitus

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Authors: K. A.Veselova, N. V.Gromova, I. N.Antonova, I. N. Kalakutskii

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There are many diseases and incidents that may result facial defects and deformities: cancer, trauma, burns, congenital anomalies, and autoimmune diseases. In some cases, patient may acquire atypically extensive facial defect, including more than one anatomical region or, by contrast, atypically small defect (e.g. partial auricular defect). The anaplastology gives us opportunity to help patient with facial disfigurement in cases when plastic surgery is contraindicated. Using of implant retention for facial prosthesis is strongly recommended because improves both aesthetic and functional results and makes using of the prosthesis more comfortable. Prostheticly oriented fixture position is extremely important for aesthetic and functional long-term result; however, the optimal site for fixture placement is not clear in cases with atypical configuration of facial defect. The objective of this report is to demonstrate challenges in fixture position determination we have faced with and offer the solution. In this report, four cases of implant-supported facial prosthesis are described. Extra-oral implants with four millimeter length were used in all cases. The decision regarding the quantity of surgical stages was based on anamnesis of disease. Facial prostheses were manufactured according to conventional technique. Clinical and technological difficulties and mistakes are described, and prostheticly oriented approach for determination of fixture position is demonstrated. The case with atypically large combined orbital and nasal defect resulting after arteriovenous malformation is described: the correct positioning of artificial eye was impossible due to wrong position of the fixture (with suprastructure) located in medial aspect of supraorbital rim. The suprastructure was unfixed and this fixture wasn`t used for retention in order to achieve appropriate artificial eye placement and better aesthetic result. In other case with small partial auricular defect (only helix and antihelix were absent) caused by squamoized cell carcinoma T1N0M0 surgical template was used to avoid the difficulties. To achieve the prostheticly oriented fixture position in case of extremely small defect the template was made on preliminary cast using vacuum thermoforming method. Two radiopaque markers were incorporated into template in preferable for fixture placement positions taking into account future prosthesis configuration. The template was put on remaining ear and cone-beam CT was performed to insure, that the amount of bone is enough for implant insertion in preferable position. Before the surgery radiopaque markers were extracted and template was holed for guide drill. Fabrication of implant-retained facial prostheses gives us opportunity to improve aesthetics, retention and patients’ quality of life. But every inaccuracy in planning leads to challenges on surgery and prosthetic stages. Moreover, in cases with atypically small or extended facial defects prostheticly oriented approach for determination of fixture position is strongly required. The approach including surgical template fabrication is effective, easy and cheap way to avoid mistakes and unpredictable result.

Keywords: anaplastology, facial prosthesis, implant-retained facial prosthesis., maxillofacil prosthese

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

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

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

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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: Saw Thiha, Jay Rajasekera

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A boom in video conferencing generated millions of hours of video data daily to be analyzed. However, such enormous data pose certain scalability issues to be analyzed efficiently, let alone do it in real-time, as online conferences can involve hundreds of people and can last for hours. This paper proposes an efficient online proctoring solution that can analyze the online conferences real-time on edge devices such as Android, iOS, and desktops. Since the computation can be done upfront on the devices where online conferences take place, it can scale well without requiring intensive resources such as GPU servers and complex cloud infrastructure. According to the linear models, face orientation does indeed impact the perceived eye openness. Also, the proposed z score facial landmark standardization was proven to be functional in detecting face orientation and contributed to classifying eye blinks with single eyelid distance computation while achieving a better f1 score and accuracy than the Eye Aspect Ratio (EAR) threshold method. Last but not least, the authors implemented the solution natively in the MediaPipe framework and open-sourced it along with the reproducible experimental results on GitHub. The solution provides face orientation, eye blink, facial activity, and translation detections out of the box and is highly customizable and extensible.

Keywords: android, desktop, edge computing, blink, face orientation, facial activity and translation, MediaPipe, open source, real-time, video conference, web, iOS, Z score facial landmark standardization

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

Abstract:

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

Procedia PDF Downloads 185

Authors: Sandip Tambare, Revati Ghadge

Abstract:

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: Kasbparast Mehdi, Hassani Zainab

Abstract:

Aim: The purpose of this research was to investigate the effectiveness of therapeutical sensorimotor exercise. The statistical population of women who were diagnosed with patellofemoral pain syndrome by a doctor and were between the ages of 35 and 45 and registered for the first time in a sports club in the 4th district of Tehran, 30 people by random sampling and according to The include and exclude criteria were selected and divided into 2 equal control and experimental and homogeneous groups (in terms of height, weight and BMI).In both control and experimental groups, the pain was measured using a Visual Analog Scale(VAS) functionality was measured using the step-down test and quality of life was measured using a World Health Organization Quality of Life Scale (WHOQOL-BREF) (pre-test). Then, only the experimental group performed sensorimotor exercises for 12 weeks and 3 sessions each week, a total of 24 sessions and each session for 1 hour, and during this period, the control group only continued their daily activities. After the end of the training period, the desired factors were evaluated again (post-test) in the same way as the pre-test was done for them (experimental group and control group), with the same quality. Findings: The statistical results showed that in the experimental group, the amount of pain, function and quality of life had a statistical improvement (P≤0.05). Conclusion: In general conclusion, it can be stated that using sensorimotor exercises not only improved functionality and quality of life but also reduced the amount of pain in people with patellofemoral pain syndrome.

Keywords: pain, PFPS, sensori motor training, functionality

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

Abstract:

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

Abstract:

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: Noha El Toukhy

Abstract:

The ‘beauty is good” stereotype suggests that people perceive attractive people as having several positive characteristics. Likewise, an “anomalous-is-bad” stereotype is hypothesized to facilitate biases against people with anomalous or less attractive faces. Researchers integrated both into a stereotype content model, which is one of the frameworks used in this study to assess how facial anomalies influence people’s social attitudes and, specifically, people’s ratings of warmth and competence. The mind perception theory, as well as the assessment of animalistic and mechanistic dehumanization against facially anomalous people, are two further frameworks that we are using in this study. This study will test the hypothesis that people have negative attitudes towards people with facial anomalies. We also hypothesize that people have negative biases toward faces with visible differences compared to faces without such differences regardless of the specific type of anomaly, as well as that individual differences in psychological dispositions bear on the expression of the anomalous-is-bad stereotype. Using highly controlled and some never-before-used face stimuli, this pre-registered study examines whether moral character influences perceptions of attractiveness, warmth, and competence for facial anomalies.

Keywords: adolescents, attractiveness, competence, social attitudes, warmth

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

Abstract:

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

Abstract:

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: Kriddikorn Kaewwongsri, Nikom Suvonvorn

Abstract:

In the deep south of Thailand, checkpoints for people verification are necessary for the security management of risk zones, such as official buildings in the conflict area. In this paper, we propose an automatic checkpoint system that verifies persons using information from ID cards and facial features. The methods for a person’s information abstraction and verification are introduced based on useful information such as ID number and name, extracted from official cards, and facial images from videos. The proposed system shows promising results and has a real impact on the local society.

Keywords: face comparison, card recognition, OCR, checkpoint system, authentication

Procedia PDF Downloads 297

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

Abstract:

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

Procedia PDF Downloads 166