Search results for: etiology

Authors: Ayat Bani Rashaid, Zain Khasawneh, Mazin Alqhazo, Shreen Nusair, Mohammad El-Khateeb, Mahmoud Bashtawi

Abstract:

Autism Spectrum disorder (ASD) is a psychiatric disorder with unknown etiology that mainly affects children in the first three years of life. Alterations of amino acid levels are believed to contribute to ASD. The levels of six essential amino acids (methionine, histidine, valine, leucine, threonine, and phenylalanine), five conditional amino acids (proline, tyrosine, glutamine, cysteine, and cystine), and five non-essential amino acids (asparagine, aspartic acid, alanine, serine, and glutamic acid) in hair samples of children with ASD (n = 25) were analyzed and compared to corresponding levels in healthy age-matched controls (n = 25). The results showed that the levels of methionine, alanine, and asparagine were significantly lower in the hair samples of ASD group compared to those of the control group (p ≤ 0.05). However, the levels of glutamic acid were significantly higher in the ASD group than the control group (p ≤ 0.05). The current findings could contribute towards further understanding of ASD etiology and provide specialists with a hair amino acid profile utilized as a biomarker for early diagnosis of ASD. Such biomarkers could participate in future developments of therapies that reduce ASD-related symptoms.

Keywords: Autism spectrum disorder, amino acids, liquid chromatography-tandem mass spectrometry, human hair.

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Authors: Tahsien Mohamed Okasha, Warda Youssef Mohamed Morsy, Hanan Elsayed Zaghla

Abstract:

We hypothesized that post cardiac arrest patients with Glasgow Coma Scale (GCS) score of less than 8 and who will be exposed to therapeutic hypothermia protocol will exhibit improvement in their neurological performance. 17 subjects were enrolled in this study all over one year. The study was carried out using Quasi-experimental research design. Four tools were used for data collection of this study: Demographic and medical data sheet, Post cardiac arrest health assessment sheet, Bedside Shivering Assessment Scale (BSAS), and Glasgow Pittsburgh cerebral performance category scale (CPC). The mean age was X̅ ± SD = 53 ± 8.122 years, 47.1% were arrested because of cardiac etiology. 35.3% subjects were initially arrested in form of ventricular tachycardia (VT), 23.5% initially arrested in form of ventricular fibrillation (VF), and 29.4% in form of A-Systole. Favorable neurological outcome was seen among 70.6%. There was significant statistical difference in WBC, Platelets, blood gases value, random blood sugar. Also, initial arrest rhythm, etiology of cardiac arrest, and shivering status were significantly correlated with cerebral performance categories score. Therapeutic hypothermia has positive effects on neurological performance among post cardiac arrest patients with GCS score of less than 8. Replication of the study on larger probability sample, with randomized control trial design is recommended with further study for suggesting nursing protocol for patients undergoing therapeutic hypothermia is recommended.

Keywords: Therapeutic hypothermia, neurological performance, after resuscitation from cardiac arrest, initial arrest rhythm.

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Authors: Robert Krause

Abstract:

Primary progressive aphasia (PPA) is a neurodegenerative disease similar to frontotemporal and semantic dementia, while having a different clinical image and anatomic pathology topography. Nonetheless, they are often included under an umbrella term: frontotemporal lobar degeneration (FTLD). In the study, examples of diagnosing PPA are presented through the multidisciplinary lens of specialists from different fields (neurologists, psychiatrists, clinical speech therapists, clinical neuropsychologists and others) using a variety of diagnostic tools such as MR, PET/CT, genetic screening and neuropsychological and logopedic methods. Thanks to that, specialists can get a better and clearer understanding of PPA diagnosis. The study summarizes the concrete procedures and results of different specialists while diagnosing PPA in a patient of younger middle age and illustrates the importance of multidisciplinary approach to differential diagnosis of PPA.

Keywords: Primary progressive aphasia, etiology, diagnosis, younger middle age.

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Authors: Rana M. Zeina, Laila Al-Ayadhi, Shahid Bashir

Abstract:

Autism Spectrum Disorders (ASDs) are characterized by abnormalities in social interaction and communication, as well as repetitive and stereotyped behaviors. Although various studies have been conducted in ASDs etiology across the world, it seems that they are still unknown in Middle East. Some scientific researches have been conducted on ASDs in Middle East (ME) especially in Kingdom of Saudi Arabia (KSA). A systematic literature review was performed to identify the ASDs studies in KSA. Accordingly, PubMed, ISI web of Science and Google were searched to find KSA and ME studies in ASDs. The main focus of this review work is to outline an improved understanding of the underpinnings of ASD in order to achieve therapeutic interventions and we will discuss the main problem we waiting for solution with reference with role of Transcranial Magnetic Stimulation (TMS) to modulate cortical activity improve understanding ASD.

Keywords: Autism, Neurodevelopmental disorder

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Authors: A. Chennaf, M. Yahia, W. Bouafia, S. Benbia, D. Khellaf

Abstract:

Our study was designed to highlight changes in  certain biochemical parameters (CH, TG, HDL, GOT, GPT, LDL and  CRP), obese women infertile fertile witnesses and research potential  pathophysiological link between obesity and infertility in this  population of women. This practical work was focused on a  population of 24 obese women infertile, compared to controls,  subjects without any pathology causing disruption of parameters to  be studied to determine the contribution of obesity in the etiology of  infertility. The assay results revealed a highly significant difference  between the two groups in serum CH, TG, HDL, TGO and TGP (P  <0.0001) and in the rate of LDL (p = 0.0017) and CRP (p = 0.02).  The present study indicates that obesity is associated with infertility,  but no direct pathophysiological link between obesity and infertility  has been determined. Further in-depth studies are needed to  determine the exact mechanism by which overweight leads to female  infertility.

 

Keywords: Obesity, fertility, infertility, biochemical, women.

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Authors: Jana Kisková, Dana Gabriková

Abstract:

Monoamine oxidase A gene (MAOA) is suggested to be a candidate gene implicated in many neuropsychiatric disorders, including autism spectrum disorder (ASD). This meta-analytic review evaluates the relationship between ASD and MAOA markers such as 30 bp variable number tandem repeats in the promoter region (uVNTR) and single nucleotide polymorphisms (SNPs) by using findings from recently published studies. It seems that in Caucasian males, the risk of developing ASD increase with the presence of 4- repeat allele in the promoter region of MAOA gene whereas no differences were found between autistic patients and controls in Egyptian, West Bengal and Korean population. Some studies point to the importance of specific haplotype groups of SNPs and interaction of MAOA with others genes (e. g. FOXP2 or SRY). The results of existing studies are insufficient and further research is needed.

Keywords: Autism spectrum disorder, MAOA, uVNTR, single nucleotide polymorphism.

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Authors: C. Barreto Carvalho, C. da Motta, J. Pinto-Gouveia, E. B. Peixoto

Abstract:

Auditory hallucinations among the most invalidating and distressing experiences reported by patients diagnosed with schizophrenia, leading to feelings of powerlessness and helplessness towards their illness. In more severe cases, these auditory hallucinations can take the form of commanding voices, which are often related to high suicidality rates in these patients. Several authors propose that the meanings attributed to the hallucinatory experience, rather than characteristics like form and content, can be determinant in patients’ reactions to hallucinatory activity, particularly in the case of voice-hearing experiences. In this study, 48 patients diagnosed with paranoid schizophrenia presenting auditory hallucinations were studied. Multiple regression analyses were computed to study the influence of several developmental aspects, such as family and social dynamics, bullying, depression, and sociocognitive variables on the auditory hallucinations, on patients’ attributions and relationships with their voices, and on the resulting invalidation of hallucinatory experience. Overall, results showed how relationships with voices can mirror several aspects of interpersonal relationship with others, and how self-schemas, depression and actual social relationships help shaping the voice-hearing experience. Early experiences of victimization and submission help predict the attributions of omnipotence of the voices, and increased hostility from parents seems to increase the malevolence of the voices, suggesting that socio-cognitive factors can significantly contribute to the etiology and maintenance of auditory hallucinations. The understanding of the characteristics of auditory hallucinations and the relationships patients established with their voices can allow the development of more promising therapeutic interventions that can be more effective in decreasing invalidation caused by this devastating mental illness.

Keywords: Auditory hallucinations, beliefs, life events, schizophrenia.

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Authors: P. Murphy, D. Vasic, A. W. Gunaratne, T. Tugonon, M. Ison, C. Pagonis, E. T. Sitchon, A. Le Busque, T. J. Borody

Abstract:

Irritable bowel syndrome (IBS) is a gastrointestinal disorder characterized by an alteration in bowel movements. There are three different types of IBS: diarrhea-predominant IBS (IBS-D), constipation-predominant IBS (IBS-C) and IBS with mixed bowel habit (IBS-M). Antimicrobials are increasingly being used as treatment for all types of IBS. Due to this increased use and subsequent success, the gut microbiome as a factor in the etiology of IBS is becoming more apparent. Accepted standard treatment has focused on IBS-C and involves either vancomycin or rifaximin. Here, we report on a cohort of 18 patients treated with both vancomycin and rifaximin for IBS-D. These patients’ records were reviewed retrospectively. In this cohort, patients were aged between 24-74 years (mean 44 years) and nine were female. At baseline all patients had diarrhea, four with mucus and one with blood. Other reported symptoms include abdominal pain (n = 11) bloating (n = 9), flatulence (n = 7), fatigue (n = 4) and nausea (n = 3). Patient’s treatments were personalized according to their symptom severity and tolerability and were treated with a combination of rifaximin (500-3000 mg/d) and vancomycin (500 mg-1500 mg/d) for an ongoing period. Follow-ups were conducted between 2-32 weeks. Of all patients, 89% reported improvement of at least 1 symptom, one reported no change and one patient’s symptoms got worse. The success of this combination treatment could be due to the different mechanisms of action undertaken by each medication. Vancomycin works by inhibiting the cell wall of the bacteria and rifaximin by inhibiting protein synthesis. This success in treatment validates the idea that IBS-D may be driven by a bacterial infection of the gastrointestinal microbiome. As IBS-D presents similarly to Clostridium difficile and symptom improvement can occur with the same treatment as Clostridium difficile of rifaximin and vancomycin, there is reason to suggest that the infectious agent could be an unidentified strain of Clostridium. Although these results offer some validity to the theory, more research is required.

Keywords: Clostridium difficile infection, diarrhea predominant irritable bowel syndrome, microbiome, vancomycin/rifaximin combination.

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Authors: Laila Salah Seada, Ashraf Ibrahim, Fawaz Al Rashid, Ihab Abdo, Hassan Kasim, Waleed Al Mansi, Saud Al Shabli

Abstract:

Background and Objectives: Colorectal carcinoma is increasing among both men and women worldwide. It has a multifactorial etiology including genetic factors, environmental factors and inflammatory conditions of the digestive tract. A clinicopathologic assessment of colorectal carcinoma in Hail region is done, considering any changing patterns in two 5-year periods from 2005-2009 (A) and from 2012 to 2017 (B). All data had been retrieved from histopathology files of King Khalid Hospital, Hail. Results: During period (A), 75 cases were diagnosed as colorectal carcinoma. Male patients comprised 56/75 (74.7%) of the study, with a mean age of 58.4 (36-97), while females were 19/75 (25.3%) with a mean age of 50.3(30-85) and the difference was significant (p = 0.05). M:F ratio was 2.9:1. Most common histological type was adenocarcioma in 68/75 (90.7%) patients mostly well differentiated in 44/68 (64.7%). Mucinous neoplasms comprised only 7/75 (9.3%) of cases and tended to have a higher stage (p = 0.04). During period (B), 115 cases were diagnosed with an increase of 53.3% in number of cases than period (A). Male to female ratio also decreased to 1.35:1, females being 44.83% more affected. Adenocarcinoma remained the prevalent type (93.9%), while mucinous type was still rare (5.2%). No distal metastases found at time of presentation. Localization of tumors was rectosigmoid in group (A) in 41.4%, which increased to 56.6% in group (B), with an increase of 15.2%. Iliocecal location also decreased from 8% to 3.5%, being 56.25% less. Other proximal areas of the colon were decreased by 25.75%, from 53.9% in group (A) to 40% in group (B). Conclusion: Colorectal carcinoma in Hail region has increased by 53.3% in the past 5 years, with more females being diagnosed. Localization has also shifted distally by 15.2%. These findings are different from Western world patterns which experienced a decrease in incidence and proximal shift of the colon cancer localization. This might be due to better diagnostic tools, population awareness of the disease, as well as changing of life style and/or food habits in the region.

Keywords: Colorectal cancer, Hail Region, changing pattern, distal shift.

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Authors: Amean A. Yasir, Zainab Kh. A. Al-Mahdi Al-Amean

Abstract:

In both developed and developing countries, obesity among women is increasing, but in different patterns and at very different speeds. It may have a negative effect on health, leading to reduced life expectancy and/or increased health problems. This research studied the age distribution among obese women, the types of overweight and obesity, and the extent of the problem of overweight/obesity and the obesity etiological factors among women in Hillah city in central Iraq. A total of 322 overweight and obese women were included in the study, those women were randomly selected. The Body Mass Index was used as indicator for overweight/ obesity. The incidence of overweight/obesity among age groups were estimated, the etiology factors included genetic, environmental, genetic/environmental and endocrine disease. The overweight and obese women were screened for incidence of infection and/or diseases. The study found that the prevalence of 322 overweight and obese women in Hillah city in central Iraq was 19.25% and 80.78%, respectively. The obese women types were recorded based on BMI and WHO classification as class-1 obesity (29.81%), class-2 obesity (24.22%) and class-3 obesity (26.70%), the result was discrepancy non-significant, P value < 0.05. The incidence of overweight in women was high among those aged 20-29 years (90.32%), 6.45% aged 30-39 years old and 3.22% among ≥ 60 years old, while the incidence of obesity was 20.38% for those in the age group 20-29 years, 17.30% were 30-39 years, 23.84% were 40-49 years, 16.92% were 50-59 years group and 21.53% were ≥ 60 years age group. These results confirm that the age can be considered as a significant factor for obesity types (P value < 0.0001). The result also showed that the both genetic factors and environmental factors were responsible for incidents of overweight or obesity (84.78%) p value < 0.0001. The results also recorded cases of different repeated infections (skin infection, recurrent UTI and influenza), cancer, gallstones, high blood pressure, type 2 diabetes, and infertility. Weight stigma and bias generally refers to negative attitudes; Obesity can affect quality of life, and the results of this study recorded depression among overweight or obese women. This can lead to sexual problems, shame and guilt, social isolation and reduced work performance. Overweight and Obesity are real problems among women of all age groups and is associated with the risk of diseases and infection and negatively affects quality of life. This result warrants further studies into the prevalence of obesity among women in Hillah City in central Iraq and the immune response of obese women.

Keywords: Obesity, overweight, Iraq, body mass index.

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Authors: Surajit Debnath, Soma Addya

Abstract:

Human genome is not only the evolutionary summation of all advantageous events, but also houses lesions of deleterious foot prints. A single gene mutation sometimes may express multiple consequences in numerous tissues and a linear relationship of the genotype and the phenotype may often be obscure. ß Thalassemia minor, a transfusion independent mild anaemia, coupled with environment among other factors may articulate into phenotypic pleotropy with Hypocholesterolemia, Vitamin D deficiency, Tissue hypoxia, Hyper-parathyroidism and Psychological alterations. Occurrence of Pancreatic insufficiency, resultant steatorrhoea, Vitamin-D (25-OH) deficiency (13.86 ngm/ml) with Hypocholesterolemia (85mg/dl) in a 30 years old male ß Thal-minor patient (Hemoglobin 11mg/dl with Fetal Hemoglobin 2.10%, Hb A2 4.60% and Hb Adult 84.80% and altered Hemogram) with increased Para thyroid hormone (62 pg/ml) & moderate Serum Ca+2 (9.5mg/ml) indicate towards a cascade of phenotypic pleotropy where the ß Thalassemia mutation ,be it in the 5’ cap site of the mRNA , differential splicing etc in heterozygous state is effecting several metabolic pathways. Compensatory extramedulary hematopoiesis may not coped up well with the stressful life style of the young individual and increased erythropoietic stress with high demand for cholesterol for RBC membrane synthesis may have resulted in Hypocholesterolemia.Oxidative stress and tissue hypoxia may have caused the pancreatic insufficiency, leading to Vitamin D deficiency. This may in turn have caused the secondary hyperparathyroidism to sustain serum Calcium level. Irritability and stress intolerance of the patient was a cumulative effect of the vicious cycle of metabolic compromises. From these findings we propose that the metabolic deficiencies in the ß Thalassemia mutations may be considered as the phenotypic display of the pleotropy to explain the genetic epidemiology. According to the recommendations from the NIH Workshop on Gene-Environment Interplay in Common Complex Diseases: Forging an Integrative Model, study design of observations should be informed by gene-environment hypotheses and results of a study (genetic diseases) should be published to inform future hypotheses. Variety of approaches is needed to capture data on all possible aspects, each of which is likely to contribute to the etiology of disease. Speakers also agreed that there is a need for development of new statistical methods and measurement tools to appraise information that may be missed out by conventional method where large sample size is needed to segregate considerable effect. A meta analytic cohort study in future may bring about significant insight on to the title comment.

Keywords: Genetic disease, Genetic epidemiology, Heterozygous, Phenotype, Pleotropy, ß Thalassemia minor, Metabolic compromises.

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