M. A. Riyami, Badria Al Ghaithi, N. Hashmi, Naifain Al Kalbani
{"title":"Study on Rare Metabolic Disorder (Primary Hyperoxaluria Type 1) among Children: Perspectives to Genotyping and Outcome","authors":"M. A. Riyami, Badria Al Ghaithi, N. Hashmi, Naifain Al Kalbani","doi":"10.9734/bpi/cdhr/v9/8613d","DOIUrl":"https://doi.org/10.9734/bpi/cdhr/v9/8613d","url":null,"abstract":"Background: Primary hyperoxaluria belongs to a group of rare metabolic disorders with autosomal recessive inheritance. It results from genetic mutations of the AGXT gene, which is more common due to higher consanguinity rates in the developing countries. Clinical features at presentation are heterogeneous even in children from the same family; this study was conducted to determine the clinical characteristics, type of AGXT mutation, and outcome in children diagnosed with PH1 at a tertiary referral center in Oman. \u0000Method: Retrospective review of children diagnosed with PH1 at a tertiary hospital in Oman from 2000 to 2013. \u0000Results: Total of 18 children were identified. Females composed 61% of the children with median presentation age of 7 months. Severe renal failure was initial presentation in 39% and 22% presented with nephrocalcinosis and/or renal calculi. Family screening diagnosed 39% of patients. Fifty percent of the children underwent hemodialysis. 28% of children underwent organ transplantation. The most common mutation found in Omani children was c.33-34insC mutation in the AGXT gene. \u0000Conclusion: Due to consanguinity, PH1 is a common cause of ESRD in Omani children. Genetic testing is recommended to help in family counseling and helps in decreasing the incidence and disease burden; it also could be utilized for premarital screening. This report is the first from Oman and the gulf region; it highlights the huge disease burden of an autosomal recessive mutation and importance of family screening and genetic counseling.","PeriodicalId":245075,"journal":{"name":"Challenges in Disease and Health Research Vol. 9","volume":"172 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"122180386","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"A Yogic Dynamic Executive Function Frame Work for Linking Attention, Adjustment and Cognitive Flexibility of School Children","authors":"Ankita Mishra, G. P. Gowda","doi":"10.9734/bpi/cdhr/v9/8755d","DOIUrl":"https://doi.org/10.9734/bpi/cdhr/v9/8755d","url":null,"abstract":"","PeriodicalId":245075,"journal":{"name":"Challenges in Disease and Health Research Vol. 9","volume":"23 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"123864791","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Chylothorax Associated with Acute Lymphoblastic Leukemia","authors":"Mehmet Can Uğur, U. Ergene","doi":"10.9734/bpi/cdhr/v9/8787d","DOIUrl":"https://doi.org/10.9734/bpi/cdhr/v9/8787d","url":null,"abstract":"","PeriodicalId":245075,"journal":{"name":"Challenges in Disease and Health Research Vol. 9","volume":"241 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"132568473","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
A. Kępka, Agnieszka Ochocińska, M. Borzym-Kluczyk, E. Skorupa, B. Stasiewicz-Jarocka, S. Chojnowska, N. Waszkiewicz
{"title":"Dietary Patterns in Alzheimer’s Disease. Preventive Role of L-carnitine and Supplementation with L-Carnitine and Its Derivatives","authors":"A. Kępka, Agnieszka Ochocińska, M. Borzym-Kluczyk, E. Skorupa, B. Stasiewicz-Jarocka, S. Chojnowska, N. Waszkiewicz","doi":"10.9734/bpi/cdhr/v9/8542d","DOIUrl":"https://doi.org/10.9734/bpi/cdhr/v9/8542d","url":null,"abstract":"","PeriodicalId":245075,"journal":{"name":"Challenges in Disease and Health Research Vol. 9","volume":"128 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"122320855","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Autism Spectrum Disorder: Neurobiological Growth and Development Treatment Options","authors":"Adam J. McTighe","doi":"10.9734/bpi/cdhr/v9/9826d","DOIUrl":"https://doi.org/10.9734/bpi/cdhr/v9/9826d","url":null,"abstract":"","PeriodicalId":245075,"journal":{"name":"Challenges in Disease and Health Research Vol. 9","volume":"86 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"114332381","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Coronavirus Disease-19 - Multi-dimensional Analysis on Incidence Rates- A Global Perspective Study","authors":"H. Magd, H. Karyamsetty","doi":"10.9734/bpi/cdhr/v9/2658f","DOIUrl":"https://doi.org/10.9734/bpi/cdhr/v9/2658f","url":null,"abstract":"The world has been impacted severely by COVID-19 pandemic and the spread of the COVID -19 is not under control as confirmed cases are still reported globally. Based on the literature review where it was suggested that the incidence rates of COVID-19 are related to environmental factors existing locally and therefore it is important to examine the diversified environmental and meteorological factors that are contributing to the disease transmission and infection rates that subsequently facilitates better management of future outbreaks and crisis. The current study explores and investigates the significance of population dynamics, dew point and altitudinal factors on incidence rates of COVID -19 across different geographical regions. Data from 129 countries are collected pertaining to the parameters of the study and each parameter is examined to know the degree of association with the confirmed cases. The study results show that the city fraction rate combining with latitude ranges substantially can predict to varying levels the incidence rate of SARS-CoV-2. Additionally, the study suggested also countries having city fraction rate in specific range has affinity to show increase in daily confirmed cases.","PeriodicalId":245075,"journal":{"name":"Challenges in Disease and Health Research Vol. 9","volume":"38 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"114403808","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Advances in Bronchoscopic Simulation Training","authors":"J. Kastelik, S. Ajab, M. Loubani","doi":"10.9734/bpi/cdhr/v9/9334d","DOIUrl":"https://doi.org/10.9734/bpi/cdhr/v9/9334d","url":null,"abstract":"Flexible bronchoscopy is an essential skill for clinicians amongst several disciplines including critical care, respiratory medicine and thoracic surgery. Traditionally this skill has been taught using the apprenticeship model which has recognised limitations with regards to patient safety, procedural volume and variability amongst training. Simulation based bronchoscopy training allows for learning in a safe, low stress environment with zero patient harm and provides an opportunity for deliberate repeated practice. Simulation based training has gained increasing acceptance with high quality evidence demonstrating accelerated bronchoscopy skill acquisition, improvements in muscle memory and hand-eye coordination with greater trainee satisfaction. Studies have also supported the transfer of skills from simulation training to clinical practice. Simulation training can be delivered using high fidelity simulators or low fidelity simulation, the latter most commonly involving inanimate models. Low fidelity models lack realism, adaptation and application for specific pathologies, though data demonstrates greater success at bronchoscopy assisted intubation when compared with traditional approaches to training. High fidelity simulators including virtual reality bronchoscopy simulators provide a highly realistic environment with the added advantage of integrated feedback features and assessment through quantitative measurements of objective data. Simulation allows for both standardisation of bronchoscopic training and of assessment of competency using tools such as the Endobronchial Ultrasound-guided Transbronchial Needle Aspiration questionnaire and Bronchoscopy Skills and Tasks Assessment tool. Despite the numerous benefits of simulation based training adoption has been slow and inconsistent, which may be attributed to trainer preferences for traditional training methods, the costs involved with simulation equipment and the time required to introduce simulation based training programmes.","PeriodicalId":245075,"journal":{"name":"Challenges in Disease and Health Research Vol. 9","volume":"54 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"114635081","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Ten Years after the Great Earthquake Hit","authors":"Jin Sasaki","doi":"10.9734/bpi/cdhr/v9/9726d","DOIUrl":"https://doi.org/10.9734/bpi/cdhr/v9/9726d","url":null,"abstract":"","PeriodicalId":245075,"journal":{"name":"Challenges in Disease and Health Research Vol. 9","volume":"84 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"132173608","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"A Case Report on Sheehan’s Syndrome","authors":"A. Reddy, A. Giri","doi":"10.9734/bpi/cdhr/v9/2093f","DOIUrl":"https://doi.org/10.9734/bpi/cdhr/v9/2093f","url":null,"abstract":"Sheehan's Syndrome refers to hypopituitarism that develops after a severe postpartum haemorrhage (PPH).Sheehan's Syndrome has become a rare entity in developed countries due to good obstetric care. In the Indian context, it is still a rare and serious problem. The severity of the pituitary necrosis determines the timing of presentation, with severe cases presenting immediately and less severe cases presenting years or decades later. At the time of her premature twin pregnancy delivery, a young woman had preeclampsia, antepartum haemorrhage, and postpartum haemorrhage. She presented with secondary amenorrhoea three years later. The diagnosis was confirmed by symptoms such as weakness, hypotension, cold intolerance, loss of sexual hair, breast and vulval atrophy, and loss of libido. ACTH, TSH, FSH, LH, Prolactin, as well as Estradiol, Cortisol, and Sodium levels were all low, confirming the diagnosis. Hormone replacement therapy with Cortisone, Thyroxine, Estrogen and Progesterone improved her general condition. Her menstrual cycles have been restored, her genital organs have been rejuvenated, and her libido has been regained. Less severe forms of Sheehan’s syndrome are insidious in onset, vague in presentation and so are under diagnosed.","PeriodicalId":245075,"journal":{"name":"Challenges in Disease and Health Research Vol. 9","volume":"18 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134622244","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
J. Méndez, Jianling Xie, Verna Méndez-Valenzuela, J. L. Martinez
{"title":"The Combination of L-lysine and Alloxan Induces Acute Necrotizing Pancreatitis in Rats: A Recent Study","authors":"J. Méndez, Jianling Xie, Verna Méndez-Valenzuela, J. L. Martinez","doi":"10.9734/bpi/cdhr/v9/9803d","DOIUrl":"https://doi.org/10.9734/bpi/cdhr/v9/9803d","url":null,"abstract":"The purpose of this study was to evaluate the L-lysine effect on the pancreas of induced diabetic rats. Adult male Sprague-Dawley rats were divided into four groups (N = 6 rats per group) and researched for 20 days. Group I: Control (saline solution, i.p.). Group II: Rats treated with 10 mM L-lysine. Group III: Rats treated with 120 mg/kg alloxan (diabetic control). Group IV: Rats treated with alloxan plus L-lysine. Blood was drawn from the aorta to determine glucose, triglycerides, and cholesterol levels. Glucose levels in Group III rats increased as predicted. A loss of body weight was also observed (p < 0.001). On day 10 of the experiment, rats in Group IV had higher glucose concentrations than diabetic control rats. The findings show that L-lysine administration to intact animals had an effect on the pancreas. Pancreatic damage was increased in animals that had previously received alloxan injections. It is obvious that a single dose of L-lysine resulted in hyperglycemia. When L-lysine is combined with alloxan, this effect is amplified. \u0000These findings allow us to propose a new model of acute pancreatitis in rats.","PeriodicalId":245075,"journal":{"name":"Challenges in Disease and Health Research Vol. 9","volume":"49 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"131406748","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}