Search results for: metabolic syndrome

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: Bassma A. Abdel Haleem, Ehab K. Emam, George E. Yacoub, Ashraf M. Salem

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Background: Obesity is an increasingly common problem in childhood. Childhood obesity is considered the main risk factor for the development of metabolic syndrome (MetS) (diabetes type 2, dyslipidemia, and hypertension). Recent studies estimated that among children with obesity 30-60% will develop MetS. Visceral fat thickness is a valuable predictor of the development of MetS. Computed tomography and dual-energy X-ray absorptiometry are the main techniques to assess visceral fat. However, they carry the risk of radiation exposure and are expensive procedures. Consequently, they are seldom used in the assessment of visceral fat in children. Some studies explored the potential of ultrasound as a substitute to assess visceral fat in the elderly and found promising results. Given the vulnerability of children to radiation exposure, we sought to evaluate ultrasound as a safer and more cost-efficient alternative for measuring visceral fat in obese children. Additionally, we assessed the correlation between visceral fat and obesity indicators such as insulin resistance. Methods: A cross-sectional study was conducted on 46 children with obesity (aged 6–16 years). Their visceral fat was evaluated by ultrasound. Subcutaneous fat thickness (SFT), i.e., the measurement from the skin-fat interface to the linea alba, and visceral fat thickness (VFT), i.e., the thickness from the linea alba to the aorta, were measured and correlated with anthropometric measures, fasting lipid profile, homeostatic model assessment for insulin resistance (HOMA-IR) and liver enzymes (ALT). Results: VFT assessed via ultrasound was found to strongly correlate with the BMI, HOMA-IR with AUC for VFT as a predictor of insulin resistance of 0.858 and cut off point of >2.98. VFT also correlates positively with serum triglycerides and serum ALT. VFT correlates negatively with HDL. Conclusions: Ultrasound, a safe and cost-efficient technique, could be a useful tool for measuring the abdominal fat thickness in children with obesity. Ultrasound-measured VFT could be an appropriate prognostic factor for insulin resistance, hypertriglyceridemia, and elevated liver enzymes in obese children.

Keywords: metabolic syndrome, pediatric obesity, sonography, visceral fat

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Authors: Muhammad Umair Arshad, Saima Ishtiaq, Ali Imran

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Different polysaccharides contribute towards the management of glycemic and satiety and consequently manage the metabolic syndrome. In the present study, we compared the postprandial glycemic and satiety responses of different dietary polysaccharides when added to milk (2% Milk Fat). The objective of this study was to evaluate different polysaccharides against postprandial glucose, appetite responses, and food intake at subsequent meals. In a repeated measures crossover design, 30 females (18–30 years) consumed 250 ml milk with 2% M.F. (control), or milk with carrageenan (2.5 g), guar gum (2.5 g) and alginate (2.5 g), followed by an ad libitum pizza meal after 120 min. Alginate and guar gum addition resulted in lower caloric intake at subsequent pizza meal. The post-treatment (0–120 min) glucose and average appetite were suppressed by alginate and guar gum (p < 0.0001), with a more pronounced effect of guar gum. However, alginate resulted in lower blood glucose (p < 0.0001) compared with control and carrageenan during post-treatment. Alginate and guar gum, added milk, and other beverages would be beneficial in the short-term regulation of postprandial glycemia and satiety.

Keywords: satiety, glycemic control, milk polysaccharides, food intake

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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: 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: 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: Vadanasundari Vedarethinam, Kun Qian

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The metabolic analysis is more distal over proteomics and genomics engaging in clinics and needs rationally distinct techniques, designed materials, and device for clinical diagnosis. Conventional techniques such as spectroscopic techniques, biochemical analyzers, and electrochemical have been used for metabolic diagnosis. Currently, there are four major challenges including (I) long-term process in sample pretreatment; (II) difficulties in direct metabolic analysis of biosamples due to complexity (III) low molecular weight metabolite detection with accuracy and (IV) construction of diagnostic tools by materials and device-based platforms for real case application in biomedical applications. Development of chips with nanomaterial is promising to address these critical issues. Mass spectroscopy (MS) has displayed high sensitivity and accuracy, throughput, reproducibility, and resolution for molecular analysis. Particularly laser desorption/ ionization mass spectrometry (LDI MS) combined with devices affords desirable speed for mass measurement in seconds and high sensitivity with low cost towards large scale uses. We developed a plasmonic chip for clinical metabolic fingerprinting as a hot carrier in LDI MS by series of chips with gold nanoshells on the surface through controlled particle synthesis, dip-coating, and gold sputtering for mass production. We integrated the optimized chip with microarrays for laboratory automation and nanoscaled experiments, which afforded direct high-performance metabolic fingerprinting by LDI MS using 500 nL of serum, urine, cerebrospinal fluids (CSF) and exosomes. Further, we demonstrated on-chip direct in-vitro metabolic diagnosis of early-stage lung cancer patients using serum and exosomes without any pretreatment or purifications. To our best knowledge, this work initiates a bionanotechnology based platform for advanced metabolic analysis toward large-scale diagnostic use.

Keywords: plasmonic chip, metabolic fingerprinting, LDI MS, in-vitro diagnostics

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Authors: Keshari Shrestha, Philip Vatterott

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

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

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Authors: Maryam Ghavam Sadri, Kimia Moiniafshari

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Objectives: Autism is a neuro-developmental disorder that has negative effects on verbal, mental and behavioral development. Studies have shown the role of a maternal dietary pattern before and during pregnancy. The relation of exerting of nutritional management programs in prevention of Autism has been approved. This review article has been made to investigate the role of nutritional management strategies before and during pregnancy in the prevention of Autism. Methods: This review study was accomplished by using the keywords related to the topic, 67 articles were found (2000-2015) and finally 20 article with criteria such as including maternal lifestyle, nutritional deficiencies and Autism prevention were selected. Results: Maternal dietary pattern and health before and during pregnancy have important roles in the incidence of Autism. Studies have suggested that high dietary fat intake and obesity can increase the risk of Autism in offspring. Maternal metabolic condition specially gestational diabetes (GDM) (p-value < 0.04) and folate deficiency (p-value = 0.04) is associated with risk of Autism. Studies have shown that folate intake in mothers with autistic children is less than mothers who have typically developing children (TYP) (p-value<0.01). As folate is an essential micronutrient for fetus mental development, consumption of average 600 mcg/day especially in P1 phase of pregnancy results in significant reduction in incidence of Autism (OR:1.53, 95%CI=0.42-0.92, p-value = 0.02). furthermore, essential fatty acid deficiency especially omega-3 fatty acid increases the rate of Autism and consumption of supplements and food sources of omega-3 can decrease the risk of Autism up to 34% (RR=1.53, 95%CI=1-2.32). Conclusion: regards to nutritional deficiency and maternal metabolic condition before and during pregnancy in prevalence of Autism, carrying out the appropriate nutritional strategies such as well-timed folate supplementation before pregnancy and healthy lifestyle adherence for prevention of metabolic syndrome (GDM) seems to help Autism prevention.

Keywords: autism, autism prevention, dietary inadequacy, maternal lifestyle

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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: Rami Al Jafar, Paul Elliott, Konstantinos K. Tsilidis, Abbas Dehghan

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Although Ramadan fasting is a ritual that is practiced every year by millions of Muslims, studies on Ramadan fasting are still scarce. To the best of our knowledge, none of the previous studies comprehensively explored the effect on the metabolic profile. In London Ramadan Fasting Study, blood samples were collected from 81 participants before and 10-14 days after Ramadan. Blood samples were analysed using nuclear magnetic resonance (NMR) spectroscopy which covers 249 metabolites. Mixed-effects models were used to analyse collected data and assess the effect of Ramadan fasting on the metabolic profile. Our observational study involved 85 individuals with a mean age of 45.2 years, and 53.1% of them were males. After Ramadan, forty metabolites were affected significantly by Ramadan fasting. Most of these metabolites were metabolites ratios (24), and the rest were three Glycolysis, three ketone bodies, nine Lipoprotein subclasses and one inflammation marker. This study suggests that Ramadan fasting is significantly associated with changes in the metabolic profile. However, the changes are assumed to be temporary, and the long-term effect of these changes is unknown.

Keywords: metabolic profile, Ramadan fasting, metabolites, intermittent fasting

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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: Mustafa Metin Donma, Orkide Donma

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Vitamin deficiencies are common in obese individuals. Particularly, the status of vitamin B12 and its association with vitamin B9 (folate) and vitamin D is under investigation in recent time. Vitamin B12 is closely related to many vital processes in the body. In clinical studies, its involvement in fat metabolism draws attention from the obesity point of view. Obesity, in its advanced stages and in combination with metabolic syndrome (MetS) findings, may be a life-threatening health problem. Pediatric obesity is particularly important because it may be a predictor of severe chronic diseases during the adulthood period of the child. Due to its role in fat metabolism, vitamin B12 deficiency may disrupt metabolic pathways of the lipid and energy metabolisms in the body. The association of low B12 levels with obesity degree may be an interesting topic to be investigated. Obesity indices may be helpful at this point. Weight- and fat-based indices are available. Of them, body mass index (BMI) is in the first group. Fat mass index (FMI), fat-free mass index (FFMI) and diagnostic obesity notation model assessment-II (D2I) index lie in the latter group. The aim of this study is to clarify possible associations between vitamin B12 status and obesity indices in the pediatric population. The study comprises a total of one hundred and twenty-two children. Thirty-two children were included in the normal body mass index (N-BMI) group. Forty-six and forty-four children constitute groups with morbid obese children without MetS and with MetS, respectively. Informed consent forms and the approval of the institutional ethics committee were obtained. Tables prepared for obesity classification by World Health Organization were used. Metabolic syndrome criteria were defined. Anthropometric and blood pressure measurements were taken. Body mass index, FMI, FFMI, D2I were calculated. Routine laboratory tests were performed. Vitamin B9, B12, D concentrations were determined. Statistical evaluation of the study data was performed. Vitamin B9 and vitamin D levels were reduced in MetS group compared to children with N-BMI (p>0.05). Significantly lower values were observed in vitamin B12 concentrations of MetS group (p<0.01). Upon evaluation of blood pressure as well as triglyceride levels, there exist significant increases in morbid obese children. Significantly decreased concentrations of high density lipoprotein cholesterol were observed. All of the obesity indices and insulin resistance index exhibit increasing tendency with the severity of obesity. Inverse correlations were calculated between vitamin D and insulin resistance index as well as vitamin B12 and D2I in morbid obese groups. In conclusion, a fat-based index, D2I, was the most prominent body index, which shows a strong correlation with vitamin B12 concentrations in the late stage of obesity in children. A negative correlation between these two parameters was a confirmative finding related to the association between vitamin B12 and obesity degree.

Keywords: body mass index, children, D2I index, fat mass index, obesity

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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: 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: Serena Gomez, Raeesa Tanseen, Netra Shaligram, Nithin Francis, Sandesh B. J.

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The human gut consists of a community of microbes which has a lot of effects on human health disease. Metabolic modeling can help to predict relative populations of stable microbes and their effect on health disease. In order to study and visualize microbes in the human gut, we developed a tool that offers the following modules: Build a tool that can be used to perform Flux Balance Analysis for microbes in the human gut using the Artificial Bee Colony optimization algorithm. Run simulations for an individual microbe in different conditions, such as aerobic and anaerobic and visualize the results of these simulations.

Keywords: microbes, metabolic modeling, flux balance analysis, artificial bee colony

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

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

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

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

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

Keywords: chromosome, DSD, FISH, karyotype

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

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

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

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

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

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

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Authors: Dipanshu Sur, Ratnabali Chakravorty, Rimi Pal, Siddhartha Chatterjee, Joyshree Chaterjee, Amal Mallik

Abstract:

Background: Polycystic ovary syndrome (PCOS) is a common endocrine disease in reproductive women with a complex hormonal disturbance that affects the menstrual cycle and leads to metabolic consequences in later life. Hyperandrogenaemia is noticeable features of PCOS and influence the process of folliculogenesis in women. The levels of Antimüllerian Hormone (AMH) reflect the number of pre-antral follicles and thus are a marker of oocyte pool – germinal reserve of the ovary for reproduction. Besides its utilization in IVF (In-vitro fertilization), determination of AMH may serve as an additional marker in the diagnostics of PCOS, where increased AMH levels reflect the severity of the disease. The positive correlation of serum AMH with the number of antral follicles was found also in patients with PCOS. Objective: The objective of this study was to investigate the relationship between AMH androgens and whether AMH contributes to altered folliculogenesis in non-obese women with PCOS. Methods: We designed a prospective study which included a total of 65 IVF individuals. It enrolled 26 cases of PCOS based on 2003 Rotterdam criteria and 39 ovulatory normal- non PCOS, healthy, age-matched controls. AMH levels and ovarian morphology were assessed. The relationships between AMH and androgenaemia in patients with and without PCOS were studied. Results: Mean age of PCOS patients were slightly higher than controls (32±4 and 28±3 years, respectively). AMH generally increased with antral follicle count (AFC) [P=0.001], testosterone, and luteinising hormone, and decreased with age, and serum sex hormone binding globulin (SHBG). No significant relationships were found between circulating AMH levels and BMI between PCOS and non-PCOS patients. The calculation of AMH production per antral follicle (AMH/AF) showed that there was a significant difference in median AMH/AF between PCOS and non-PCOS (P =0.001). Both PCOS and non-PCOS groups showed a very similar increase in AMH with increases in AFC, but the PCOS patients had consistently higher AMH across all AFC levels. Conclusions: These observations indicate that there is a connection between AMH and androgens levels between PCOS and non-PCOS East Indian women. Excessive granulosa cell activity may be implicated in the abnormal follicular dynamic of the syndrome. They are higher in women with PCOS and, on the other hand, very low in women with an ovarian failure.

Keywords: anti-Mullerian hormone, polycystic ovary syndrome, antral follicle count, androgens

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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

Procedia PDF Downloads 98

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: 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

Procedia PDF Downloads 216

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

Procedia PDF Downloads 68

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 165

Authors: Hazel Ann Gianelli Cu, Stephanie Co, Radcliff Cobankiat

Abstract:

Objectives: TRC101/Veverimer is an orally administered, non absorbed, sodium- and counterion-free hydrochloric acid binder for the treatment of metabolic acidosis associated with chronic kidney disease. The main objective of this study is to determine the efficacy of TRC 101/ Veverimer 6g/day in increasing serum bicarbonate levels of chronic kidney disease patients with metabolic acidosis. In this meta analysis, we also aim to look at safety outcomes, adverse effects and if the level of serum bicarbonate reached metabolic alkalosis when given TRC101/Veverimer. Methodology: Pubmed, Cochrane, Google Scholar and Science direct were used to search for randomized controlled trials about TRC101/Veverimer use in Chronic kidney disease patients with metabolic acidosis. Search strategy according to the Prisma checklist was done with evaluation of biases and synthesis of results using the Cochrane Review Manager software 5.4. Results: Two randomized controlled trials involving 371 chronic kidney disease patients were included in this study. Results show there was a significant increase in the serum bicarbonate level when given TRC101/Veverimer compared to the placebo. Both studies had a significant number of participants who completed the studies until the end. P value of <0.00001 was used in both studies with a confidence interval of 95%. Conclusion: TRC101/Veverimer 6g/day was shown to effectively and safely increase serum bicarbonate or achieve normalization in chronic kidney disease patients with metabolic acidosis as compared with a placebo. This was associated with delayed progression of kidney disease with improvement of physical functioning, however longer duration of future studies is ideal in order to assess further the long advantages and consequences of TRC 101/Veverimer.

Keywords: chronic kidney disease, metabolic acidosis, Veverimer, TRC101

Procedia PDF Downloads 168

Authors: M. J. Pourvaghar, M. E. Bahram

Abstract:

Obesity and overweight is one of the most common metabolic disorders in industrialized countries and in developing countries. One consequence of pathological obesity is cardiovascular disease and metabolic syndrome. Chemerin is an adipocyne that plays a role in the regulation of the adipocyte function and the metabolism of glucose in the liver and musculoskeletal system. Most likely, chemerin is involved in obesity-related disorders such as type 2 diabetes and cardiovascular disease. Aerobic exercises reduce the level of chemerin and cause macrophage penetration into fat cells and inflammatory factors. Several efforts have been made to clarify the cellular and molecular mechanisms of hypertrophy and muscular atrophy. Myostatin, a new member of the TGF-β family, is a transforming growth factor β that its expression negatively regulates the growth of the skeletal muscle; and the increase of this hormone has been observed in conditions of muscular atrophy. While in response to muscle overload, its levels decrease after the atrophy period, TGF-β is the most important cytokine in the development of skeletal muscle. Myostatin plays an important role in muscle control, and animal and human studies show a negative role of myostatin in the growth of skeletal muscle. Separation of myostatin from Golgi begins on the ninth day of the onset period and continues until birth at all times of muscle growth. Higher levels of myostatin are found in obese people. Resistance training for 10 weeks could reduce levels of plasma myostatin.

Keywords: chemerin, myostatin, obesity, physical activity

Procedia PDF Downloads 279