Search results for: narcissistic victim syndrome

Authors: Bajraktarevic Adnan, Djukic Branka, Sporisevic Lutvo, Krdzalic Zecevic Belma, Uzicanin Sajra, Hadzimuratovic Admir, Hadzimuratovic Hadzipasic Emina, Abduzaimovic Alisa, Kustric Amer, Suljevic Ismet, Serafi Ismail, Tahmiscija Indira, Khatib Hakam, Semic Jusufagic Aida, Haas Helmut, Vladicic Aleksandra, Aplenc Richard, Kadic Deovic Aida

Abstract:

Introduction: Joubert syndrome has an autosomal recessive pattern of inheritance. It is referred as the brain malfunctioning and caused due to the underdevelopment of the cerebellar vermis. Associated conditions involving the eye, the kidney, and ocular disease are well described. Aims: Research helps us better understand this diseases, Joubert syndrome and can lead to advances in diagnosis and treatment. Methods: Different several conditions have been described in which the molar tooth sign and characteristics of Joubert syndrome in ten different places in the world. Carrier testing and diagnosis are available if one of these gene mutations has been identified in an affected family member. Results: Authors have described eleven cases during twenty years of Joubert syndrome. It is a clinically and genetically heterogeneous group of disorders characterized by hypoplasia of the cerebellar vermis with the characteristic neuroradiologic molar tooth sign, and accompanying neurologic symptoms, including dysregulation of breathing pattern and developmental delay. We made confirmation of diagnosis in twin sisters with Joubert syndrome with renal anomalies. Ocular symptoms have existed in seven cases (63.64%) from total eleven. Eleven cases were different sex, five boys (45.45%) and six girls (54.44%). Conclusions: Joubert syndrome is inherited as an autosomal recessive genetic disorder with several features of the disease.

Keywords: Joubert syndrome, cerebellooculorenal syndrome, autosomal recessive genetic disorder (ARGD), children

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

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Background: Driving drowsiness related to inadequate or disordered sleep accounts for a major percentage of traffic accidents. Sleep-disordered breathing (SDB) syndrome is a common respiratory disorder during sleep. However, the effects of SDB syndrome on driving fatigue remain unclear. Objective: This study aims to investigate the relationship between SDB pattern and driving drowsiness. Methodologies: The physical condition while driving was obtained from the questionnaires to classify the state of driving fatigue. SDB syndrome was quantified as the polysomnography, and the air flow pattern was collected by the thermistor and nasal pressure cannula. To evaluate the desaturation, the mean hourly number of greater than 3% dips in oxygen saturation was sentenced by reregistered technologist during examination in a hospital in New Taipei City (Taiwan). The independent T-test was used to investigate the correlations between sleep disorders related index and driving drowsiness. Results: There were 880 subjects recruited in this study, who had been done polysomnography for evaluating severity for obstructive sleep apnea syndrome (OSAS) as well as completed the driver condition questionnaire. Four-hundred-eighty-four subjects (55%) were classified as fatigue group, and 396 subjects (45%) were served as the control group. Significantly higher values of snoring index (242.14 ± 205.51 /hours) were observed in the fatigue group (p < 0.01). The value of respiratory disturbance index (RDI) (31.82 ± 19.34 /hours) in fatigue group were significantly higher than the control group (p < 0.01). Conclusion: We observe the considerable association between SDB syndrome and driving drowsiness. To promote traffic safety, SDB syndrome should be controlled and alleviated.

Keywords: driving drowsiness, sleep-disordered breathing syndrome, snoring index, respiratory disturbance index.

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Authors: Ignacio Luis Ramirez, Brittney Holcomb

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This study examines attitudes toward sexual assault based on religious affiliation, religiosity, religious beliefs, attitude about sexual assault education, alcohol, and drug use. This study found respondents who identified themselves as Catholics had more negative attitudes toward sexual assault and were more likely to support victim-blaming statements than Baptists or Protestants. Respondents who indicated a greater problem with alcohol had more negative attitudes toward sexual assault and were more likely to support victim-blaming statements. In reference to gender, males had more negative attitudes toward sexual assault and were more likely to support victim-blaming statements than females. The respondent’s religiosity and religious beliefs did not affect their attitudes toward sexual assault. Additionally, attitudes about sexual assault education and drug use did not affect attitudes toward sexual assault.

Keywords: sexual assault, religion, education, alcohol, drugs

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Authors: Elena Jiménez Lidueña, Noelia Santos Muriel, Patricia López Resa, Noelia Pulido García, Esther Moraleda Sepúlveda

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In recent years, there has been a notable increase in the number of investigations that establish that Down Syndrome and Autism Spectrum Disorder are diagnoses that can coexist together. However, there are also many studies that consider that both diagnoses present neuropsychological, linguistic and adaptive characteristics with a totally different profiles. The objective of this research is to question whether there really can be a profile that encompasses both disorders or if they can be incompatible with each other. To this end, a review of the scientific literature of recent years has been carried out. The results indicate that the two lines collect opposite approaches. On the one hand, there is research that supports the increase in comorbidity between Down Syndrome and Autism Spectrum Disorder and, on the other hand, shows a totally different general development profile between the two. The discussion focuses on discussing both lines of work and on proposing future lines of research in this regard.

Keywords: Down Syndrome, Autism, comorbidity, linguistic

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Authors: Kolawole Oyekan Jamiu

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In Nigerian criminal law, a victim of an offence plays little or no role in the prosecution of an offender. The state concentrates only on imposing punishment on the offender while the victims of crime and abuse of power by security agencies are abandoned without any compensation either from the State or the offender. It has been stated that the victim of crime is the forgotten man in our criminal justice system. He sets the criminal law in motion but then goes into oblivion. Our present criminal law does not recognise the right of the victim to take part in the prosecution of the case or his right to compensation. The victim is merely a witness in a state versus case. This paper examines the meaning of the phrase ‘the victims of crime and abuse of power’. It needs to be noted that there is no definition of these two categories of victims in any statute in Nigeria. The paper also considers the United Nations General Assembly Declaration of Basic Principle of Justice for Victims and abuse of power. This declaration was adopted by the United Nations General Assembly on the 25th of November 1985. The declaration contains copious provisions on compensation for the victims of crime and abuse of power. Unfortunately, the declaration is not, in itself a legally binding instrument and has been given little or no attention since the coming into effect in1985. This paper examines the role of the judiciary in ensuring that victims of crime and abuse of power in Nigeria are compensated. While some Judges found it difficult to award damages to victims of abuse of power others have given some landmark rulings and awarded substantial damages. The criminal justice ( victim’s remedies) Bill shall also be examined. The Bill comprises of 74 sections and it spelt out the procedures for compensating the victims of crime and abuse of power in Nigeria. Finally, the paper also examines the practicability of awarding damages to victims of crime whether the offender is convicted or not and in addition, the possibility of granting all equitable remedies available in civil cases to victims of crime and abuse of power so that the victims will be restored to the earlier position before the crime.

Keywords: compensation, damages, restitution, victims

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Authors: Taraneh Ashrafi Motlagh, Abdolrasoul Daneshjoo

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Background and Aim: Increased fatigue causes injuries; the purpose of this article was to investigate the angular displacement of the hip and knee joints in girls with patellofemoral syndrome. Materials and Methods: Thirty girls with an average age (age 28.73±1.83, height 168.49±5.59, weight 63.73±12.73) participated in this study in two groups of 15, experimental and control. The jet evaluation test was taken from the subjects' knee and thigh angle, and then these tests were repeated with the application of different inclines of the treadmill; the tests were examined in a neutral position and in a positive and negative slope of 5 degrees. The mean and standard deviation were used to describe the data, and the Shapirovik test was used for the normalization of the data to compare and examine the variables in the two research groups using an independent t-test and repeated analysis of variance at a significance level of 0.05. Conclusion: In general, according to the current studies of people with patellofemoral syndrome, running on steep inclines, as well as running on a treadmill and making the incline angle of the treadmill within the limit of minus 5% to plus 5%, does not affect the improvement of this condition, and it is not recommended. And according to the research, girls with patellofemoral syndrome should be placed on the treadmill at an inclined angle to run.

Keywords: patellofemoral syndrome, angular displacement of the knee, angular displacement of the thigh

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Authors: Xu Yifei, Le Yining, Yang Qingluan, Tu Yanjie

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Objective: This study aims to investigate the distribution features of Traditional Chinese Medicine (TCM) syndromes and syndrome elements in Epstein-Barr virus-associated diseases and then explores the relations between TCM syndromes or syndrome elements and laboratory indicators of Epstein-Barr virus-associated diseases. Methods: A cross-sectional study of 70 patients with EBV infection was described. We assessed the diagnostic information and laboratory indicators of these patients from Huashan Hospital Affiliated to Fudan University between November 2017 and July 2019. The disease diagnosis and syndrome differentiation were based on the diagnostic criteria of EBV-associated diseases and the theory of TCM respectively. Confidence correlation analysis, logistic regression analysis, cluster analysis, and the Sankey diagram were used to analyze the correlation between the data. Results: The differentiation of the 4 primary TCM syndromes in the collected patients was correlated with the indexes of immune function, liver function, inflammation, and anemia, especially the relationship between Qifen syndrome and high lactic acid dehydrogenase level. The common 11 TCM syndrome elements were associated with the increased CD3+ T cell rate, low hemoglobin level, high procalcitonin level, high lactic acid dehydrogenase level, and low albumin level. Conclusion: The changes in immune function indexes, procalcitonin, and liver function-related indexes in patients with EBV-associated diseases were consistent with the evolution law of TCM syndromes. This study provides a reference for judging the pathological stages of these kinds of diseases, predicting their prognosis, and guiding subsequent treatment strategies based on TCM syndrome type.

Keywords: EBV-associated diseases, traditional Chinese medicine syndrome, syndrome element, diagnostics

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Authors: Aran Abd Al Rahman

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Joubert syndrome regards as a congenital cerebellar ataxia caused by autosomal recessive carried on X chromosome. The disease diagnosed by brain imaging—the so-called molar tooth sign. Neurological signs were present from the neonatal period and include hypotonia progressing to ataxia, global developmental delay, ocular motor apraxia, and breathing dysregulation. These signs are variably associated with multiorgan involvement, mainly of the retina, kidneys, skeleton, and liver. 30 causative genes have been identified so far, all of which encode for proteins of the primary cilium or its apparatus, The purpose of our project was to detect the mutant gene (INPP5E gene) which cause Joubert syndrome. There were many methods used for diagnosis such as MRI and CT- scan and molecular diagnosis by doing ARMS PCR for detection of mutant gene that we were used in this research project. In this research for individual family which reported, the two children with parents, the two children were affected and were carrier.

Keywords: Joubert syndrome, genetic disease, Kurdistan region, Sulaimani

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Authors: Amany Ragab, Nashwa Khairat Abousamra, Omayma Saleh, Asmaa Higazy

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Insulin resistance syndrome has been shown to be associated with many coagulation and fibrinolytic proteins and these associations suggest that some coagulation and fibrinolytic proteins have a role in atherothrombotic disorders. This study was conducted to determine the levels of some of the haemostatic parameters in subjects having metabolic syndrome and to correlate these values with the anthropometric and metabolic variables associated with this syndrome. The study included 46 obese non diabetic subjects of whom 28 subjects(group1) fulfilled the ATP III criteria of the metabolic syndrome and 18 subjects (group2) did not have metabolic syndrome as well as 14 lean subjects (group 3) of matched age and sex as a control group. Clinical and laboratory evaluation of the study groups stressed on anthropometric measurements (weight, height, body mass index, waist circumference, and sagittal abdominal diameter), blood pressure, and laboratory measurements of fasting plasma glucose, fasting insulin, serum lipids, tissue plasminogen activator (t-PA), antithrombin III activity (ATIII), protein C and von Willebrand factor (vWf) antigen. There was significant increase in the concentrations of t-PA and vWf antigens in subjects having metabolic syndrome (group 1) in comparison to the other groups while there were non-significant changes in the levels of protein C antigen and AT III activity. Both t-PA and vWf showed significant correlation with HOMA-IR as a measure of insulin sensitivity. The t-PA showed also significant correlation with most of the variables of metabolic syndrome including waist circumference, BMI, systolic blood pressure, fasting plasma glucose, fasting insulin, and HDL cholesterol. On the other hand, vWf showed significant correlations with fasting plasma glucose, fasting insulin and sagital abdominal diameter, with non-significant correlations with the other variables. Haemostatic and fibrinolytic parameters should be included in the features and characterization of the insulin resistance syndrome. t-PA and vWf antigens concentrations were increased in subjects with metabolic syndrome and correlated with the HOMA-IR measure of insulin sensitivity. Taking into consideration that both t-PA and vWf are mainly released from vascular endothelium, these findings could be an indicator of endothelial dysfunction in that group of subjects.

Keywords: insulin resistance, obesity, metabolic syndrome, coagulation

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Authors: Alireza Monzavi Chaleshtari, Mahnaz Aliakbari Dehkordi, Mina Gholampour, Majid Saffarinia, Tayebeh Mohtashami, Amin Asadi Hieh

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The study aimed to assess the impact of positive psychology education on the social well-being of high school girls experiencing premenstrual syndrome (PMS). The statistical population comprised high school girls with PMS, with 30 randomly selected participants divided into two groups: 15 in the experimental group and 15 in the control group. The research employed a pre-test and post-test design using a standard questionnaire to evaluate premenstrual syndrome symptoms over a 7-day period before menstruation to a maximum of 2 days after menstruation, along with the Social Keys welfare questionnaire. During the study, the experimental group underwent an 8-session positive psychology group program. Data analysis was conducted using analysis of covariance. The results indicated a significant positive effect of positive psychology training on enhancing the social well-being of girls (p < 0.05). In conclusion, the findings suggest that positive psychology interventions can effectively increase social well-being among high school girls experiencing premenstrual syndrome.

Keywords: positive psychology, premenstrual syndrome, social welfare, girls

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Authors: Nguyen Dang Duc, Nguyen Phuong Sinh, Lam Nguyen Hong Anh

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Superior mesenteric artery (SMA) syndrome is a rare cause of high-section intestinal obstruction. SMA syndrome is characterized by compression of the third segment of the duodenum due to the narrowing of the distance between the superior mesenteric artery and the abdominal aorta. The main clinical signs of SMA syndrome are high intestinal obstruction, such as postprandial vomiting, epigastric pain, early feeling of abdominal fullness, and indigestion. Abdominal computed tomography plays an important role in diagnosis. There are two main methods of treating SMA syndrome that are conservative and surgical treatment. We report a clinical case of an 18-year-old male patient admitted to the hospital because of a Bungarus snake bit in the second hour, to the twelfth day of treatment, the patient developed diarrhea that lasted until the twenty-fourth day of treatment. On the twenty-fifth day of treatment, the patient lost 16 kilograms (from 56 down to 40). The patient had symptoms of vomiting after eating, indigestion, and epigastric pain. On abdominal computed tomography, the angle created by the superior mesenteric artery and the abdominal aorta was 17 degrees, the distance between the two arteries was 3.8 millimeters, light dilation and stagnation of the D1 and D2 segment of the duodenum with gas and watery level inside segment D3 and D4 of the duodenum and this segment was constricted. This patient was diagnosed with superior mesenteric artery syndrome with the Bungarus snake bites. Currently, the patient was treated with feeding through a jejunal tube each other intravenous nutrition. Finally, The patient was discharged and returned to his house on the forty-fifth day of treatment. We reported this clinical case to introduce clinical and paraclinical signs, diagnose, and methods treated for patient having SMA syndrome.

Keywords: superior mesenteric artery syndrome, Bungarus snake bites, loss weight

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Authors: Ashraf Shebl, Bassam Garah, Radah Youssef

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Sexual assault is usually a hidden crime where the only witnesses are the victim and the assailant. For a variety of reasons, even the victim may be unable to provide a detailed account of the assault or the identity of the perpetrator. Often the case history deteriorates into one person’s word against another. With such limited initial information, the physical and biological evidence collected from the victim, from the crime scene, and from the suspect will play a pivotal role in the objective and scientific reconstruction of the events in question. The aim of work is to examine whether DNA profiles could be recovered from repeated washed clothes after contaminated by semen stains. Fresh semen about 1ml. ( <1 h old) taken from donor was deposited on four types of clothes (cotton, silk, polyester, and jeans). Then leave to dry in room temperature and washed by washing machine at temperature (30°C-60°C) and by hand washing. Some items of clothing were washed once, some twice and others three times. DNA could be extracted from some of these samples even after multiple washing. This study demonstrates that complete DNA profiles can be obtained from washed semen stains on different types of clothes, even after many repeated washing. These results indicated that clothes of the victims must be examined even if they were washed many times.

Keywords: sexual assault, DNA, persistence, clothes

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Authors: Chandralekha Ashangari, Amer Suleman

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Background and Purpose: The Postural Orthostatic Tachycardia Syndrome (POTS) affects primarily young women. POTS is a form of dysautonomia that is estimated to impact between 1,000,000 and 3,000,000 Americans, and millions more around the world. POTS is a form of orthostatic intolerance that is associated with many Gastrointestinal disturbances. The aim of this study is to determine the Gastrointestinal disturbances in Postural Orthostatic Tachycardia Syndrome (POTS) patients.2. Methods: 249 patients referred to our clinic from January to November with POTS. Reviewed the medical records of 249 POTS patients and gastrointestinal symptoms. Results: however out of 249 patients, 226 patients are female (90.76%; average age 32.69), 23 patients are male (9.24%; average age 27.91) Data analysis: Out of 249 patients 189 patients (76%) had vomiting or nausea, 150 patients (60%) had irritable bowel syndrome, 128 patients (51%) had bloating, 125 patients (50%) had constipation , 80 patients (32%) had abdominal pain, 56 patients (22%) had delayed gastric emptying, 24 patients (10%) had lactose intolerance, 8 patients (3%) had Gastroesophageal reflux disease, 5 patients (2%) had Iron deficiency anemia, 6 patients (2%) had Peptic ulcer disease, 4 patients (2%) had Celiac Disease. Conclusion: Patients with POTS have a very high prevalence of gastrointestinal symptoms however the majority of abnormalities appear to be motility related. Motility testing should be performed be performed in POTS patients. The diagnostic yield of endoscopic procedures appears to be low.

Keywords: gastrointestinal disturbances, Postural Orthostatic Tachycardia Syndrome (POTS), celiac disease, POTS patients

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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: 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: 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: 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: Komal Saeed

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Introduction: Rhinoplasty is considered one of the challenging aesthetic procedures. Psychosocial concerns motivate the urge for aesthetic procedures especially rhinoplasty. Males who fall in this category are designated as single, immature, male, over expectant and narcissistic (SIMON) in literature. As of yet, there is no term that depicts females showing similar characteristics. The purpose of this study is to evaluate the incidence of body dysmorphic disorder (BDD) in females seeking rhinoplasty and to introduce a term for such individuals. Materials and Methods: A prospective, questionnaire based, qualitative study was conducted in the Department Of Plastic Surgery between March 2018 and March 2020. 110 female candidates seeking aesthetic rhinoplasty were included in the study. BDD was evaluated using the Dysmorphic Concerns Questionnaire, DCQ. Data were analyzed using SPSS version 25 software and correlation between the groups was evaluated. Results: Out of 110 female subjects, 77.3% (n=85) were single, 16.4% (n=18) were married and 6.4% (n=7) were divorced. BDD was found in 41.8% (n=46) of the candidates, majority being single (n=41, 89.1%) and having educational status above diploma (n=39, 84.8%). There was a statistically higher percentage of young adults between 24 and 28 years (n=33, 71.7%) having BDD (p= 0.0001). Conclusion: Considering the high frequency of BDD among females seeking rhinoplasty, a standardized term ‘SIFON’ is introduced to describe such individuals who are S; single, I; immature, F; female, O; over expectant, N; narcissistic as apposed to SIMON in males. These individuals perceive aesthetic procedures as a solution to their body dissatisfaction. Therefore, preoperative counseling seems necessary to avoid unsatisfactory outcomes secondary to mental health.

Keywords: aesthetic rhinoplasty, body dismorphic disorder, single, immature, obsessive

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

Abstract:

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

Abstract:

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

Abstract:

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

Abstract:

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: 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

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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: 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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