Excellence in Research and Innovation for Humanity

International Science Index

Commenced in January 1999 Frequency: Monthly Edition: International Abstract Count: 49756

Medical and Health Sciences

2230
85569
International Classification of Primary Care as a Reference for Coding the Demand for Care in Primary Health Care
Abstract:
Introduction: The International Classification of Primary Care (ICPC) is part of the morbidity classification system. It had 17 chapters, and each is coded by an alphanumeric code: the letter corresponds to the chapter, the number to a paragraph in the chapter. The objective of this study is to show the utility of this classification in the coding of the reasons for demand for care in Primary health care (PHC), its advantages and limits. Methods: This is a cross-sectional descriptive study conducted in 4 PHC in Ariana district. Data on the demand for care during 2 days in the same week were collected. The coding of the information was done according to the CISP. The data was entered and analyzed by the EPI Info 7 software. Results: A total of 523 demands for care were investigated. The patients who came for the consultation are predominantly female (62.72%). Most of the consultants are young with an average age of 35 ± 26 years. In the ICPC, there are 7 rubrics: 'infections' is the most common reason with 49.9%, 'other diagnoses' with 40.2%, 'symptoms and complaints' with 5.5%, 'trauma' with 2.1%, 'procedures' with 2.1% and 'neoplasm' with 0.3%. The main advantage of the ICPC is the fact of being a standardized tool. It is very suitable for classification of the reasons for demand for care in PHC according to their specificity, capacity to be used in a computerized medical file of the PHC. Its current limitations are related to the difficulty of classification of some reasons for demand for care. Conclusion: The ICPC has been developed to provide healthcare with a coding reference that takes into account their specificity. The CIM is in its 10th revision; it would gain from revision to revision to be more efficient to be generalized and used by the teams of PHC.
Digital Article Identifier (DAI):
2229
85468
Detection of Helicobacter Pylori by PCR and ELISA Methods in Patients with Hyperlipidemia
Abstract:
Hyperlipidemia refers to any of several acquired or genetic disorders that result in a high level of lipids circulating in the blood. Helicobacter pylori infection is a contributing factor in the progression of hyperlipidemia with serum lipid changes. The aim of this study was to detect of Helicobacter pylori by PCR and serological methods in patients with hyperlipidemia. In this case-control study, 174 patients with hyperlipidemia and 174 healthy controls were studied. Also, demographics, physical and biochemical parameters were performed in all samples. The DNA extracted from blood specimens was amplified by H pylori cagA specific primers. The results show that H. pylori cagA positivity was detected in 79% of the hyperlipidemia and in 56% of the control group by ELISA test and 49% of the hyperlipidemia and in 24% of the control group by PCR test. Prevalence of H. pylori infection was significantly higher in hyperlipidemia as compared to controls. In addition, patients with hyperlipidemia had significantly higher values for triglyceride, total cholesterol, LDL-C, waist to hip ratio, body mass index, diastolic and systolic blood pressure and lower levels of HDL-C than control participants (all p < 0.0001). Our result detected the ELISA was a rapid and cost-effective detection and considering the high prevalence of cytotoxigenic H. pylori strains, cag A is suggested as a promising target for PCR and ELISA tests for detection of infection with toxigenic strains. In general, it can be concluded that molecular analysis of H. pylori cagA and clinical parameters are important in early detection of hyperlipidemia and atherosclerosis with H. pylori infection by PCR and ELISA tests.
Digital Article Identifier (DAI):
2228
83889
Case Report: A Rare Case of Popliteal Artery Aneurysm Presenting with Foot Drop
Abstract:
Popliteal artery aneurysms (PAAs) are the most common arterial aneurysm of the periphery. It is defined as focal dilation of the artery more than 50% of the normal vessel diameter which usually varies between 7 mm to 11 mm. The most common presentation for PAAs is claudication due to luminal stenosis secondary to mural thrombus or acute limb ischaemia due to occlusive thrombosis or distal thromboembolism. It is less common for patients to present with non-ischaemic symptoms secondary to mass effect and compression of adjacent structures, and of these, presentation with common peroneal nerve compression is particularly uncommon. We present a rare case of a 92-year-old female patient presenting with 4-month history of left foot drop with radiological evidence of common peroneal nerve compression secondary to PAA of 22 mm by 21mm in size. To the best of our knowledge, this is the smallest reported popliteal aneurysm presenting with foot drop. We also present the endovascular treatment option taken in our case.
Digital Article Identifier (DAI):
2227
83884
The Levels of Neurosteroid 7β-Hydroxy-Epiandrosterone in Men and Pregnant Women
Abstract:
Background: 7β-hydroxy-epiandrosterone (7β–OH-EpiA) is an endogenous steroid, that has been shown to exert neuroprotective and anti-inflammatory effects in vitro as well as in animal models. However, to the best of our knowledge no information is available about concentration of this androgen metabolite in human population. The aim of the study was to measure and compare levels of 7β–OH-EpiA in men and pregnant women in different biological fluids and evaluate the relationship between 7β–OH-EpiA in men and their sperm quality. Methods: First, a sensitive isotope dilution high performance liquid chromatography-mass spectrometry method for measurement of 7β–OH-EpiA in different biological fluids was developed. Validation of the method met the requirements of FDA guidelines. Afterwards 7β–OH-EpiA in plasma and seminal plasma of 191 men with different degree of infertility (healthy men, lightly infertile men, moderately infertile men, severely infertile men) was analysed. Furthermore, the levels of 7β–OH-EpiA in plasma of 34 pregnant women in 37th week of gestation and corresponding cord plasma that reflects steroid levels in the fetus were measured. Results: Concentrations of 7β–OH-EpiA in seminal plasma were significantly higher in severely infertile men in comparison with healthy men and lightly infertile men. The same trend was observed when blood plasma was evaluated. Furthermore, plasmatic 7β –OH-EpiA negatively correlated with concentration (-0.215; p < 0.01) and total count (-0.15; p < 0.05). Seminal 7β–OH-EpiA was negatively associated with motility (-0.26; p < 0.01), progressively motile sperms (-0.233; p < 0.01) and nonprogressively motile sperms (-0.188; p < 0.05). Plasmatic 7β –OH-EpiA levels in men were generally higher in comparison with pregnant women. Levels 7β–OH-EpiA were under the lower limit of quantification (LLOQ) in majority of samples of pregnant women and cord plasma. Only 4 plasma samples of pregnant women and 7 cord blood plasma samples were above LLOQ and where in range of units of pg/ml. Conclusion: Based on available information, this is the first study measuring 7β–OH-EpiA in human samples. 7β–OH-EpiA is associated with lower sperm quality and certainly it is worth to explore its role in this field thoroughly. Interestingly, levels of 7β–OH-EpiA in pregnant women were extremely low despite the fact that steroid levels including androgens are generally higher during pregnancy. Acknowledgements: This work was supported by the project MH CR 17-30528 A from the Czech Health Research Council, MH CZ - DRO (Institute of Endocrinology - EU, 00023761) and by the MEYS CR (OP RDE, Excellent research - ENDO.CZ).
Digital Article Identifier (DAI):
2226
83878
The Exposure to Endocrine Disruptors during Pregnancy and Relation to Steroid Hormones
Abstract:
Endocrine disruptors (EDs) are substances leaching from various industrial products, which are able to interfere with the endocrine system. Their harmful effects on human health are generally well-known, and exposure during fetal development may have lasting effects. Fetal exposure and transplacental transport of bisphenol A (BPA) have been recently studied; however, less is known about alternatives such as bisphenol S (BPS), bisphenol F (BPF) and bisphenol AF (BPAF), which have started to appear in consumer products. The human organism is usually exposed to the mixture of EDs, out of which parabens are otherwise known to transfer placenta. The usage of many cosmetic, pharmaceutical and consumer products during the pregnancy that may contain parabens and bisphenols has led to the need for investigation. The aim of the study was to investigate the transplacental transport of BPA, its alternatives, and parabens, and to study their relation to fetal steroidogenesis. BPA, BPS, BPF, BPAF, methylparaben, ethylparaben, propylparaben, butylparaben, benzylparaben and 15 steroids including estrogens, corticoids, androgens and immunomodulatory ones were determined in 27 maternal (37th week of gestation) and cord plasma samples using liquid chromatography - tandem mass spectrometry methods. The statistical evaluation of the results showed significantly higher levels of BPA (p=0.0455) in cord plasma compared to maternal plasma. The results from multiple regression models investigated that in cord plasma, methylparaben, propylparaben and the sum of all measured parabens were inversely associated with testosterone levels. To our best knowledge, this study is the first attempt to determine the levels of alternative bisphenols in the maternal and cord blood, and also the first study reporting the simultaneous detection of bisphenols, parabens, and steroids in these biological fluids. Our study confirmed the transplacental transport of BPA, with likely accumulation in the fetal compartment. The negative association of cord blood parabens and testosterone levels highlights their possible risks, especially for the development of male fetuses. Acknowledgements: This work was supported by the project MH CR 17-30528 A from the Czech Health Research Council, MH CZ - DRO (Institute of Endocrinology - EÚ, 00023761) and by the MEYS CR (OP RDE, Excellent research - ENDO.CZ).
Digital Article Identifier (DAI):
2225
83862
Management of Blood Exposure Risk: Knowledge and Attitudes of Caregivers in Pediatric Dapartments
Abstract:
Background: Blood exposure accidents are the most common problem in hospitals that threaten healthcare professionals with a high risk of infectious complications which weighs heavily on health systems worldwide. Paramedics are the highest risk group due to the nature of their daily activities. We aimed to determine knowledge and attitudes about the management of blood-exposure accidents among nurses and technicians in two pediatric departments. Materials/Methods: This is a cross-sectional descriptive study conducted on March 2017, carried out with the care staff of the pediatric ward of the Farhat Hached Teaching Hospital of Sousse and pediatric surgery of the Fattouma Bourguiba University Hospital in Monastir, using a pre- tested and self-administered questionnaire. Data entry and analysis were performed using Excel software. Results: The response rate was 85.1%. A female predominance (82.5%) was reported among respondents with a sex ratio of 0.21. 80% of the participants were under 35 years old. Seniority of less than 10 years was found in 77.5% of respondents. Only 22.5% knew the definition of a blood- exposure accident. 100% and 95% of participants reported the relative risk, respectively, to hepatitis and AIDS viruses. However, only 15% recognized the severity factors of a blood-exposure accident. Hygiene compliance was the most important dimension for almost the entire population for the prevention. On the other hand, only 12.5% knew the meaning of 'standard precautions' and ¼ considered them necessary for at-risk patients only. 40% reported being exposed at least once, among them, 87.5% used betadine, and 77.5% said that anti-infectious chemoprophylaxis is necessary regardless of the patient's serological status. However, 52.5% did not know the official reporting circuit of management of blood-exposure accident in their institutions. Conclusion: For better management of risks in hospitals and an improvement of the safety of the care, a reinforcement of the sensibilization of the caregivers with regard to the risks of blood exposure accident is necessary, while developing their knowledge to act in security.
Digital Article Identifier (DAI):
2224
83861
Demand for Care in Primary Health Care in the Governorate of Ariana: Results of a Survey in Ariana Primary Health Care and Comparison with the Last 30 Years
Abstract:
Introduction: In Tunisia, few studies have attempted to describe the demand for primary care in a standardized and systematic way. The purpose of this study is to describe the main reasons for demand for care in primary health care, through a survey of the Ariana Governorate PHC and to identify their evolutionary trend compared to last 30 years, reported by studies of the same type. Materials and methods: This is a cross-sectional descriptive study which concerns the study of consultants in the first line of the governorate of Ariana and their use of care recorded during 2 days in the same week during the month of May 2016, in each of these PHC. The same data collection sheet was used in all CSBs. The coding of the information was done according to the International Classification of Primary Care (ICPC). The data was entered and analyzed by the EPI Info 7 software. Results: Our study found that the most common ICPC chapters are respiratory (42%) and digestive (13.2%). In 1996 were the respiratory (43.5%) and circulatory (7.8%). In 2000, we found also the respiratory (39,6%) and circulatory (10,9%). In 2002, respiratory (43%) and digestive (10.1%) motives were the most frequent. According to the ICPC, the pathologies in our study were acute angina (19%), acute bronchitis and bronchiolitis (8%). In 1996, it was tonsillitis ( 21.6%) and acute bronchitis (7.2%). For Ben Abdelaziz in 2000, tonsillitis (14.5%) follow by acute bronchitis (8.3%). In 2002, acute angina (15.7%), acute bronchitis and bronchiolitis (11.2%) were the most common. Conclusion: Acute angina and tonsillitis are the most common in all studies conducted in Tunisia.
Digital Article Identifier (DAI):
2223
82656
Review of the Safety of Discharge on the First Postoperative Day Following Carotid Surgery: A Retrospective Analysis
Abstract:
Objective: This was a retrospective cross-sectional study evaluating the safety of discharge on the first postoperative day following carotid surgery - principally carotid endarterectomy. Methods: Between January 2010 to October 2017, 252 patients with mean age of 72 years, underwent carotid surgery by seven surgeons. Their medical records were consulted and their operative as well as complication timelines were databased. Descriptive statistics were used to analyse pooled responses and our indicator variables. The statistical package used was STATA 13. Results: There were 183 males (73%) and the comorbid burden was as follows: ischaemic heart disease (54%), diabetes (38%), hypertension (92%), stage 4 kidney impairment (5%) and current or ex-smoking (77%). The main indications were transient ischaemic attacks (42%), stroke (31%), asymptomatic carotid disease (16%) and amaurosis fugax (8%). 247 carotid endarterectomies (109 with patch arterioplasty, 88 with eversion and transection technique, 50 with endarterectomy only) were performed. 2 carotid bypasses, 1 embolectomy, 1 thrombectomy with patch arterioplasty and 1 excision of a carotid body tumour were also performed. 92% of the cases were performed under general anaesthesia. A shunt was used in 29% of cases. The mean length of stay was 5.1 ± 3.7days with the range of 2 to 22 days. No patient was discharged on day 1. The mean time from admission to surgery was 1.4 ± 2.8 days, ranging from 0 to 19 days. The mean time from surgery to discharge was 2.7 ± 2.0 days with the of range 0 to 14 days. 36 complications were encountered over this period, with 12 failed repairs (5 major strokes, 2 minor strokes, 3 transient ischaemic attacks, 1 cerebral bleed, 1 occluded graft), 11 bleeding episodes requiring a return to the operating theatre, 5 adverse cardiac events, 3 cranial nerve injuries, 2 respiratory complications, 2 wound complications and 1 acute kidney injury. There were no deaths. 17 complications occurred on postoperative day 0, 11 on postoperative day 1, 6 on postoperative day 2 and 2 on postoperative day 3. 78% of all complications happened before the second postoperative day. Out of the complications which occurred on the second or third postoperative day, 4 (1.6%) were bleeding episodes, 1 (0.4%) failed repair , 1 respiratory complication (0.4%) and 1 wound complication (0.4%). Conclusion: Although it has been common practice to discharge patients on the second postoperative day following carotid endarterectomy, we find here that discharge on the first operative day is safe. The overall complication rate is low and most complications are captured before the second postoperative day. We suggest that patients having an uneventful first 24 hours post surgery be discharged on the first day. This should reduce hospital length of stay and the health economic burden.
Digital Article Identifier (DAI):
2222
81864
Effect of Foot Reflexology Treatment on Arterial Blood Gases among Mechanically Ventilated Patients
Abstract:
Reflexology treatment is a method for enhancing body relaxation. It is a widely recognized as an alternative therapy, effective for many health conditions. This study aimed to evaluate the effect of reflexology treatment on arterial blood gases among mechanically ventilated patients. A quasi-experimental (pre and post-test) research design was used. Research hypothesis was mechanically ventilated patients who will receive the reflexology treatment will have improvement in their arterial blood gases than those who will not. The current study was carried out in different Intensive Care Units at the Cairo University Hospitals. A purposeful sample of 100 adults’ mechanically ventilated patients was recruited over a period of three months of data collection. The participants were divided into two equally matched groups; (1) The study group who has received the routine care, in addition, two reflexology sessions on the feet, (2) The control group who has received only the routine care. One tool was utilized to collect data pertinent to the study; mechanically ventilated patients' data sheet that consists of demographic and medical data. Result: Majority (58% of the study group and 82% of the control group) were males, with mean age of 50.9 years in both groups. Patients who received the reflexology treatment significantly increase in the oxygen saturation pre second session (t=5.15, p=.000), immediate post sessions (t=4.4, p=.000) and post two hours (t= 4.7, p= .000). The study group was more likely to have lower PaO2 (F=5.025, p=.015), PaCo2 (F=4.952, p=.025) and higher HCo3 (F=15.211, p=.000) than the control group. Conclusion: This study results support the positive effect of reflexology treatment in improving some arterial blood gases among mechanically ventilated patients’ with the conventional therapy as in the study group there was increase in the oxygen saturation. In differences between groups there decrease PaO2, PaCo2 and increase HCo3 in the study group. Recommendation: Nurses should be trained how to demonstrate the foot reflexology among mechanically ventilated patients.
Digital Article Identifier (DAI):
2221
81777
Non-Communicable Diseases: Knowledge, Attitudes and Practices of Risk Factors among Secondary School Students in Sharjah, UAE
Abstract:
Background: Non-communicable diseases (NCDs) have become an alarming health problem across the globe. The risk of developing those diseases begins in childhood and develops gradually under the influence of risk factors including obesity, hypertension, dyslipidemia, cigarette smoking and decreased physical activity. Therefore, this study aims to determine the level of knowledge, attitudes, and practices of the risk factors of lifestyle induced chronic diseases (non-communicable diseases) among secondary school students in Sharjah city. Methods: Five hundred and ninety-one school children, from grades 10 to 12, formed the study sample, using the multistage stratified cluster sampling method. Four governmental schools were chosen, for each gender. Data was collected through a pretested, close-ended questionnaire consisting of five sections; demographics, physical activity, diet, smoking and sleeping patterns. Frequencies and descriptive statistics were used to analyze data through SPSS 23. Results: The data showed 64.6% of students had low knowledge of risk factors of non-communicable diseases. Concerning physical activity, 58.2 % were physically inactive and females being less active than males. More than 2/3 of students didn’t fulfill the recommended daily intake of fruits and vegetables (75.9%). 8% reported to be smokers with cigarettes being the most encountered tobacco product. Conclusion: Our study has demonstrated a low level of knowledge and practices yet, positive attitudes towards risk factors of chronic diseases. We recommend implementation of thorough awareness campaigns through public health education about the risk factors of non-communicable diseases.
Digital Article Identifier (DAI):
2220
81751
Knowledge and Attitude towards Helicobacter pylori: Awareness about Health Impacts of H. pylori Gastric Ulcer and Its Carcinogenic Potential among Adults in Sharjah
Abstract:
H. pylori bacterium is a known underlying agent for gastritis, peptic ulcer disease, and gastric cancer and is believed to infect half of the world’s population. Even with the ubiquity of H. pylori bacterium, there is lack of knowledge regarding its modes of transmission, associated diseases, carcinogenic effect and means of prevention; especially in the UAE. A cross sectional study of 500 participants, of which 58% (n= 289) of the respondents were female, and 42% (n=210) were male, was conducted in Sharjah to assess the knowledge, and explore the attitudes and practices among UAE residents towards Helicobacter Pylori and its associated PUD as well as its carcinogenic nature. A structured self-administered questionnaire was distributed to the target population to establish their demographic background and selected aspects of their lifestyle. General knowledge about H. Pylori was poor, only 24.6% stated they have heard of H. pylori. Attitudes towards prevention and practices were relatively poor as well. Subjects who suffered from severe symptoms (ALARM symptoms) had significantly lower habit scores than those with mild and moderate symptoms (p=0.0078**). To the authours’ knowledge, no previous studies were conducted in the United Arab Emirates regarding the epidemiology of the infection to detect the extent of H. Pylori’s impact on the public health. The results of this study can be used to draw conclusions about the average knowledge of the UAE population regarding H. pylori. It can also be a starting point to devise new education programs and campaigns that raise awareness of this health issue which could be easily avoided with early diagnosis and antibiotic treatment.
Digital Article Identifier (DAI):
2219
81749
Salon-Associated Infections: Customer’s Knowledge and Practice Measures
Abstract:
Background: Human being uses salon for a variety of purposes, from trimming of hair and shaving to a range of beauty treatments such as manicure and pedicure. Salon activities involve use of several instruments including scissors, scalpels and razors, materials such as soaps, solutions, creams and gels on human skin and body. Besides, salon customers also use chair, bed and many other common shared utensils and appliances. These salons related activities create a suitable environment for the transmission of several diseases and pathogens including hepatitis B and C, scabies, tuberculosis, staphylococcus and MRSA etc. The transmission of these pathogens can be prevented by maintenance of adequate hygiene and standard preventive measures. Aim: To assess the customer’s level of knowledge about salon-acquired infections and practices taken to prevent their transmission. Methods: A cross-sectional study was conducted among 500 participants across the Emirates. Moreover, self-administered questionnaires (in English and Arabic) were distributed through convenience sampling methods between February and April 2017. Results: The study included 500 participants of which 250 were females. The mean age of the study population was 33 years (SD=4.77). The participants were from several nationalities including 325 Arabs (Non-GCC) (66.2%), 108 Non-Arabs (22%), and 59 Arabs (GCC) (11.8%). The majority of the participants 421 (84.4%) had required knowledge about salon-associated infections with a mean knowledge score of 6/10 (60%). However, when it comes down to preventive practices, only 73 of the 500 participants (14.6%) did carry their own equipment. Thus, there was insufficient correlation between the level of knowledge and preventive practices (p=0.139) of salon-associated infections. Conclusion: People’s knowledge about the salon-associated infections among UAE residents was good, but only a small number practically took the required preventative measures towards this issue. Therefore, a public awareness program is recommended to enhance the deficiencies in knowledge and practices to prevent salon-acquired infections among the users. Up to our knowledge, this is the first study of this kind in the UAE targeting the salon customers about this important issue.
Digital Article Identifier (DAI):
2218
81566
Automatic Wandering Detection System Based on a Microwave Doppler Sensor- Classification Transition of Three States: Resting, Moving, and Absence-
Abstract:
With global aging, people who require care, such as people with dementia (PwD), are increasing in many developed countries. PwD are likely to wander and unconsciously set foot outdoors, making them susceptible to serious accidents, for example, traffic accidents. Here, round-the-clock monitoring by caregivers is necessary, which can be a burden for the caregivers. Therefore, an automatic wandering detection system is required when an elderly person wanders outdoors, in which case the detection system transmits a 'moving' followed by an 'absence' state. In this paper, we focus on the transition from the 'resting' to the 'absence' state, via the 'moving' state as one of the wandering transitions. To capture the transition of the three states, our proposed method based on the hidden Markov model (HMM) is built. Using our method, the restraint where the 'resting' state and 'absence' state cannot be transmitted to each other is applied. To validate our proposed method, we conducted the experiment with 10 subjects. Our results show that the proposed method can classify three states with 0.92 accuracy.
Digital Article Identifier (DAI):
2217
81161
The Perspective of Health Care Professionals of Pediatric Palliative Care
Abstract:
Background: Pediatric palliative care has been increasing, and the number of studies has focused on the age at which pediatric patient can be notified their terminal illness, pediatric advanced care planning (ACP) and palliative care. However, there is a lack of research on health professionals’ perception. Aim: We aimed to investigate the perceptions of healthcare professionals about appropriate age disclosing terminal illness, awareness of ACP, and the relationship between ACP knowledge and the preference for palliative care for children. Methods: We administered nationwide questionnaires to 928 physicians from the 12 hospitals and the Korean Medical Association and 1,241 individuals of the general Korean population. We asked about the age at which the pediatric patients could be notified of their terminal illness, by 4 groups; 4 years old or older, 12 years old or older, 15 years old or older, or not. In addition, we surveyed the questionnaires about the knowledge of ACP of the medical staff, the preference of the pediatric hospice palliative care, aggressive treatment, and life-sustaining treatment preference. Results: In the appropriate age disclosing terminal illness, there were more respondents in the physicians than in the general population who thought that it was possible even at a younger age. Palliative care preference in pediatric patients who were expected to expire within months was higher when health care professionals had knowledge of ACPs compared to those without knowledge. The same results were obtained when deaths were expected within weeks or days. The age of the terminal status notification, the health care professionals who thought to be available at a lower age have a higher preference for palliative care and has less preference for aggressive treatment and life-sustaining treatment. Conclusion: Despite the importance of pediatric palliative care, our study confirmed that there is a difference in the preference of the health care professionals for pediatric palliative care according to the ACP knowledge of the medical staff or the appropriate age disclosing terminal illness. Future research should focus on strategies for inducing changes in perceptions of health care professionals and identifying other obstacles for the pediatric palliative care.
Digital Article Identifier (DAI):
2216
81068
Therapeutic Effect of Indane 1,3-Dione Derivatives in the Restoration of Insulin Resistance in Human Liver Cells and in Db/Db Mice Model: Biochemical, Physiological and Molecular Insights of Investigation
Abstract:
Advanced glycation end products (AGEs) precursor and its abnormal accumulation cause damage to various tissues and organs. AGEs have pathogenic implication in several diseases including diabetes. Existing AGEs inhibitors are not in clinical use, and there is a need for development of novel inhibitors. The present investigation aimed at identifying the novel AGEs inhibitors and assessing their mechanism of action for treating insulin resistance in mice model of diabetes. Novel derivatives of benzylidene of indan-1,3-dione were synthesized. The compounds were selected to study their action mechanism in improving insulin resistance, in vitro, in human hepatocytes and murine adipocytes and then, in vivo, in mice genetic model of diabetes (db/db). Mice were treated with novel derivatives of benzylidene of indane 1,3-dione. AGEs mediated ROS production was measured by dihydroethidium fluorescence assay. AGEs level in the serum of treated mice was observed by ELISA. Gene expression of receptor for AGEs (RAGE), PPAR-gamma, TNF-alpha and GLUT-4 was evaluated by RT-PCR. Glucose uptake was measured by fluorescent method. Microscopy was used to analyze glycogen synthesis in muscle. Among several derivatives of benzylidene of indan-1,3-dione, IDD-24, demonstrated highest inhibition of AGESs. IDD-24 significantly reduced AGEs formation and expression of receptor for advanced glycation end products (RAGE) in fat, liver of db/db mice. Suppression of AGEs mediated ROS production was also observed in hepatocytes and fat cell, after treatment with IDD-24. Glycogen synthesis was increased in muscle tissue of mice treated with IDD-24. In adipocytes, IDD-24 prevented AGEs induced reduced glucose uptake. Mice treated with IDD-24 exhibited increased glucose tolerance, serum adiponectin levels and decreased insulin resistance. The result of present study suggested that IDD-24 can be a possible treatment target to address glycotoxins induced insulin resistance.
Digital Article Identifier (DAI):
2215
80838
A Rare Case of Popliteal Artery Aneurysm Presenting with Foot Drop
Abstract:
Popliteal artery aneurysms (PAAs) are the most common arterial aneurysm of the periphery. It is defined as focal dilation of the artery more than 50% of the normal vessel diameter which usually varies between 7 mm to 11 mm. The most common presentation for PAAs is claudication due to luminal stenmosis secondary to mural thrombus or acute limb ischaemia due to occlusive thrombosis or distal thromboembolism. It is less common for patients to present with non-ischaemic symptoms secondary to mass effect and compression of adjacent structures, and of these, presentation with common peroneal nerve compression is particularly uncommon. We present a rare case of a 92-year-old female patient presenting with 4-month history of left foot drop with radiological evidence of common peroneal nerve compression secondary to PAA of 22 mm by21mm in size. To the best of our knowledge, this is the smallest reported popliteal aneurysm presenting with foot drop. We also present the endovascular treatment option taken in our case.
Digital Article Identifier (DAI):
2214
80784
Bacterial Diversity in Vaginal Microbiota in Patients with Different Levels of Cervical Lesions Related to Human Papillomavirus Infection
Abstract:
Vaginal microbiota is a complex ecosystem, composed by aerobic and anaerobic bacteria, living in a dynamic equilibrium. Lactobacillus spp. are predominant in vaginal ecosystem, and factors such as immunity and hormonal variations may lead to disruptions, resulting in proliferation of opportunistic pathogens. Bacterial vaginosis (BV) is a polymicrobial syndrome, caused by an increasing of anaerobic bacteria replacing Lactobacillus spp. Microorganisms such as Gardnerella vaginalis, Mycoplasma hominis, Mobiluncus spp., and Atopobium vaginae can be found in BV, which may also be associated to other infections such as by Human Papillomavirus (HPV). HPV is highly prevalent in sexually active women, and is considered a risk factor for development of cervical cancer. As long as few data is available on vaginal microbiota of women with HPV-associated cervical lesions, our objectives were to evaluate the diversity in vaginal ecosystem in these women. To all patients, clinical and socio-demographic data were collected after gynecological examination. This study was approved by the Ethics Committee from Federal University of Juiz de Fora, Minas Gerais, Brazil. Vaginal secretion and cervical scraping were collected. Gram-stained smears were evaluated to establish Nugent score for BV determination. Viral and bacterial DNA obtained was used as template for HPV genotyping (PCR) and bacterial fingerprint (REP-PCR). In total 31 patients were included (mean age 35 and 93.6% sexually active). The Nugent score showed that 38.7% were BV. From the medical records, Pap smear tests showed that 32.3% had low grade squamous epithelial lesion (LSIL), 29% had high grade squamous epithelial lesion (HSIL), 25.8% had atypical squamous cells of undetermined significance (ASC-US) and 12.9% with atypical squamous cells that would not exclude high-grade lesion (ASC-H). All participants were HPV+. HPV-16 was the most frequent (87.1%), followed by HPV-18 (61.3%). HPV-31, HPV-52 and HPV-58 were also detected. Coinfection HPV-16/HPV-18 was observed in 75%. In the 18-30 age group, HPV-16 was detected in 40%, and HPV-16/HPV-18 coinfection in 35%. HPV-16 was associated to 30% of ASC-H and 20% of HSIL patients. BV was observed in 50% of HPV-16+ participants and in 45% of HPV-16/HPV-18+. Fingerprints of bacterial communities showed clusters with low similarity suggesting high heterogeneity in vaginal microbiota within the sampled group. Overall, the data is worrisome once cervical-cancer highly risk-associated HPV-types were identified. The high microbial diversity observed may be related to the different levels of cellular lesions, and different physiological conditions of the participants (age, social behavior, education). Further prospective studies are needed to better address correlations and BV and microbial imbalance in vaginal ecosystems which would be related to the different cellular lesions in women with HPV infections. Supported by FAPEMIG, CNPq, CAPES, PPGCBIO/UFJF.
Digital Article Identifier (DAI):
2213
80780
Bacterial Diversity in Human Intestinal Microbiota and Correlations with Nutritional Behavior, Physiology, Xenobiotics Intake and Antimicrobial Resistance in Obese, Overweight and Eutrophic Individuals
Abstract:
Obesity is currently a worldwide public health threat, being considered a pandemic multifactorial disease related to the human gut microbiota (GM). Add to that GM is considered an important reservoir of antimicrobial resistance genes (ARG) and little is known on GM and ARG in obesity, considering the altered physiology and xenobiotics intake. As regional and social behavior may play important roles in GM modulation, and most of the studies are based on small sample size and various methodological approaches resulting in difficulties for data comparisons, this study was focused on the investigation of GM bacterial diversity in obese (OB), overweight (OW) and eutrophic individuals (ET) considering their nutritional, clinical and social characteristics; and comparative screening of AGR related to their physiology and xenobiotics intake. Microbial community was accessed by FISH considering phyla as a taxonomic level, and PCR-DGGE followed by dendrograms evaluation (UPGMA method) from fecal metagenome of 72 volunteers classified according to their body mass index (BMI). Nutritional, clinical, social parameters and xenobiotics intake were recorded for correlation analysis. The fecal metagenome was also used as template for PCR targeting 59 different ARG. Overall, 62% of OB were hypertensive, and 12% or 4% were, regarding the OW and ET individuals. Most of the OB were rated as low income (80%). Lower relative bacterial densities were observed in the OB compared to ET for almost all studied taxa (p < 0.05) with Firmicutes/Bacteroidetes ratio increased in the OB group. OW individuals showed a bacterial density representative of GM more likely to the OB. All the participants were clustered in 3 different groups based on the PCR-DGGE fingerprint patterns (C1, C2, C3), being OB mostly grouped in C1 (83.3%) and ET mostly grouped in C3 (50%). The cluster C2 showed to be transitional. Among 27 ARG detected, a cluster of 17 was observed in all groups suggesting a common core. In general, ARG were observed mostly within OB individuals followed by OW and ET. The ratio between ARG and bacterial groups may suggest that AGR were more related to enterobacteria. Positive correlations were observed between ARG and BMI, calories and xenobiotics intake (especially use of sweeteners). As with nutritional and clinical characteristics, our data may suggest that GM of OW individuals behave in a heterogeneous pattern, occasionally more likely to the OB or to the ET. Regardless the regional and social behaviors of our population, the methodological approaches in this study were complementary and confirmatory. The imbalance of GM over the health-disease interface in obesity is a matter of fact, but its influence in host's physiology is still to be clearly elucidated to help understanding the multifactorial etiology of obesity. Although the results are in agreement with observations that GM is altered in obesity, the altered physiology in OB individuals seems to be also associated to the increased xenobiotics intake and may interfere with GM towards antimicrobial resistance, as observed by the fecal metagenome and ARG screening. Support: FAPEMIG, CNPQ, CAPES, PPGCBIO/UFJF.
Digital Article Identifier (DAI):
2212
80420
Inhibitory Effects of Crocin from Crocus sativus L. on Cell Proliferation of a Medulloblastoma Human Cell Line
Abstract:
Medulloblastoma is a highly invasive tumour, as it tends to disseminate throughout the central nervous system early in its course. Despite the high 5-year-survival rate, a significant number of patients demonstrate serious long- or short-term sequelae (e.g., myelosuppression, endocrine dysfunction, cardiotoxicity, neurological deficits and cognitive impairment) and higher mortality rates, unrelated to the initial malignancy itself but rather to the aggressive treatment. A strong rationale exists for the use of Crocus sativus L (saffron) and its bioactive constituents (crocin, crocetin, safranal) as pharmaceutical agents, as they exert significant health-promoting properties. Crocins are water soluble carotenoids. Unlike other carotenoids, crocins are highly water-soluble compounds, with relatively low toxicity as they are not stored in adipose and liver tissues. Crocins have attracted wide attention as promising anti-cancer agents, due to their antioxidant, anti-inflammatory, and immunomodulatory effects, interference with transduction pathways implicated in tumorigenesis, angiogenesis, and metastasis (disruption of mitotic spindle assembly, inhibition of DNA topoisomerases, cell-cycle arrest, apoptosis or cell differentiation) and sensitization of cancer cells to radiotherapy and chemotherapy. The current research aimed to study the potential cytotoxic effect of crocins on TE671 medulloblastoma cell line, which may be useful in the optimization of existing and development of new therapeutic strategies. Crocins were extracted from stigmas of saffron in ultrasonic bath, using petroleum-ether, diethylether and methanol 70%v/v as solvents and the final extract was lyophilized. Identification of crocins according to high-performance liquid chromatography (HPLC) analysis was determined comparing the UV-vis spectra and the retention time (tR) of the peaks with literature data. For the biological assays crocin was diluted to nuclease and protease free water. TE671 cells were incubated with a range of concentrations of crocins (16, 8, 4, 2, 1, 0.5 and 0.25 mg/ml) for 24, 48, 72 and 96 hours. Analysis of cell viability after incubation with crocins was performed with Alamar Blue viability assay. The active ingredient of Alamar Blue, resazurin, is a blue, nontoxic, cell permeable compound virtually nonfluorescent. Upon entering cells, resazurin is reduced to a pink and fluorescent molecule, resorufin. Viable cells continuously convert resazurin to resorufin, generating a quantitative measure of viability. The colour of resorufin was quantified by measuring the absorbance of the solution at 600 nm with a spectrophotometer. HPLC analysis indicated that the most abundant crocins in our extract were trans-crocin-4 and trans-crocin-3. Crocins exerted significant cytotoxicity in a dose and time-dependent manner (p < 0.005 for exposed cells to any concentration at 48, 72 and 96 hours versus cells not exposed); as their concentration and time of exposure increased, the reduction of resazurin to resofurin decreased, indicating reduction in cell viability. IC50 values for each time point were calculated ~3.738, 1.725, 0.878 and 0.7566 mg/ml at 24, 48, 72 and 96 hours, respectively. The results of our study could afford the basis of research regarding the use of natural carotenoids as anticancer agents and the shift to targeted therapy with higher efficacy and limited toxicity. Acknowledgements: The research was funded by Fellowships of Excellence for Postgraduate Studies IKY-Siemens Programme.
Digital Article Identifier (DAI):
2211
80240
Pattern of Biopsy Proven Renal Disease and Association between the Clinical Findings with Renal Pathology in Eastern Nepal
Abstract:
Background: The pattern of glomerular disease varies worldwide. In absence of kidney disease/Kidney biopsy registry in Nepal, the exact etiology of different forms of glomerular disease is primarily unknown in our country. Method: We retrospectively analyzed 175 cases of renal biopsies performed from dated September 2014 to August 2016 at B. P. Koirala Institute of Health Sciences, Dharan, Nepal. Results: The commonest indication for renal biopsy was nephrotic syndrome (34.9%), followed by Systemic lupus erythematosus with suspected renal involvement (22.3%). Majority of patients were in the 30-60 year bracket (57.2%), with the mean age of the patients being 35.37 years. The average number of glomeruli per core was 13, with inadequate sampling in 5.1%. IgA nephropathy (17%) was found to be the most common primary glomerular disease, followed by membranous nephropathy (14.6%) and FSGS (14.6%). The commonest secondary glomerular disease was lupus nephritis. Complications associated with renal biopsy were pain at biopsy site in 18% of cases, hematuria in 6% and perinephric hematoma in 4% cases. Conclusion: The commonest primary and secondary glomerular disease was IgA nephropathy and lupus nephritis respectively. The high prevalence of Systemic lupus erythematosus with lupus nephritis among Nepalese in comparison with other developing countries warrants further evaluation. As an initial attempt towards documentation of glomerular diseases in the national context, this study should serve as a stepping stone towards the eventual establishment of a full-fledged national registry of glomerular diseases in Nepal.
Digital Article Identifier (DAI):
2210
80230
Impact of Youth Corners and Knowledge about Human Sexuality among Young Adults and Adolescents of Nigerian Population in the Prevention of Sexually Transmitted Diseases
Abstract:
Background: Access to youth Friendly Health Corners is vital for ensuring sexual reproductive health and total well being of young Adults since human sexuality has been widely misunderstood. Meanwhile, behavior of young people towards it remains at variance with the alarm. This study attempt to access the impact of youth corners also called Adolescent Friendly Health Corners on manifestation of human sexual behavior among Nigerian adolescent and young adults. Description: Hundred young adults and adolescents of both sex between the Age range of 12-25years were randomly selected from 5 secondary schools and 3 prominent universities in Southwestern Nigeria and focal group discussions (FGD) were conducted among them. Fifty secondary and primary health facilities were visited between February and June 2017 to conduct interviews for health workers and to ascertain the presence or absence of youth corners. Results: 95% of the health facilities visited lack Youth Corners section neither are they willing to make provision for it due to lack of workmanship and sponsorship. However, 5% with Youth corners does not have well-trained Counselors or a Health Educator but health professionals from nursing profession. 90% of the respondents of which 16-17 years of Age is the mean age had their first sexual exposure with no use of protection even before been introduced to what Sexuality is all about. Virtually, none of the respondents had ever visited a Youth Corner before or heard the term before. 86% have heard about the term STI before of which 60% are using protection, 10% care less about any information attached to the term STI, 4% have not heard of the term STI before even when translated to their local dialect. 20% are abstaining as at the time the study was conducted and they attribute their sexual decision to religion and parental influence. Of the age group 20-25, 45% claimed they have had symptoms of one STI or the other and 40% claimed they have been tested positive for an STI before of which 12% have positive HIV status. Promiscuous behaviors were found among them before they reach the age 16years with pornography ranking the highest, followed by masturbation. Respondents blame this on peer pressure, the lack of Youth Friendly Centers in their locality and lack of proper Sexual Orientation on time. About half of the respondents make use of contraceptives while others have varying views. We found out that inability to access Youth Friendly Centers amongst the respondents might be one of the singular reasons of their early experimentation of their sex life and lack of healthy sexual lifestyle. (95% CI, P=0.922) Conclusion: The study reveals that a connection between youth Friendly Centers and Prevention of Sexually Transmitted Diseases, therefore more sustainable Friendly Youth Corners with well-trained educators are needed in various Health facilities to checkmate the numerous risks of Young People along the path of adulthood.
Digital Article Identifier (DAI):
2209
80226
Biodistribution Studies of ¹⁷⁷Lu-DOTATOC in Mouse Tumor Model: Possible Utilization in Adenocarcinoma Breast Cancer Treatment
Abstract:
Despite the appropriate characteristics of ¹⁷⁷Lu and DOTATOC, to our best knowledge, the therapeutic benefit of ¹⁷⁷Lu-DOTATOC complex in breast cancer has not been reported until now. In this study, biodistribution of ¹⁷⁷Lu-DOTA-TOC in mouse tumor model for evaluation of possible utilization of this complex in breast cancer treatment was investigated.¹⁷⁷Lu was prepared with the specific activity of 2.6-3 GBq.mg⁻¹ and radionuclidic purity of higher than 99%. The radiolabeled complex was prepared in the optimized conditions with the radiochemical purity of higher than 99%. The final solution was injected to the BALB/c mice with adenocarcinoma breast cancer. The biodistribution results showed major accumulation in the kidneys as the major excretion route and the somatostatin receptor-positive tissues such as pancreas compared with the other tissues. Also, significant uptake was observed in tumor even in longer time after injection. According to the results obtained in this research study, somatostatin receptors expressed in breast cancers can be targeted with DOTATOC analogues especially with ¹⁷⁷Lu-DOTATOC as an ideal therapeutic agent.
Digital Article Identifier (DAI):
2208
80115
Prevalence of Periodontal Diseases in Children with Herpetic Stomatitis in City Tashkent
Abstract:
Update of preventive medicine has exacerbated the problem of cause-and-effect relationship between the presence of herpetic stomatitis (HS) and periodontal disease. Comprehensive survey of children with herpetic stomatitis, according to WHO equirements, on the territory of Tashkent years was conducted. Objective: To analyze the prevalence and intensity of periodontal tissue diseases in children with herpetic stomatitis. Materials and methods. Dental disease in Tashkent was studied in 156 children with herpetic stomatitis, as a control, the incidence of dental studied in 153 children of comparable age and sex never without a history of herpetic stomatitis. Results and discussion. The study revealed that 42,86 ± 13,23% of children with Herpetic stomatitis in the age group 6 years, 1 month - 10 years suffered from periodontal disease, the incidence of periodontal disease in the control group was 14,29 ± 9,35% (R≥0 05) corresponding to the frequency of detection of sextants with bleeding and tartar was equal to 35,71 ± 12,80% vs. 7,14 ± 6,88% (R≥0,05) and 14,29 ± 9,35% against 7 14 ± 6,88% (R≥0,05). Status of periodontal tissues was assessed in age groups 6 years, 1 month - 10 years and 10 years, 1 month - 15 years. The intensity of periodontal lesions observed at the level of 1,79 ± 0,06 vs. 0,66 ± 0,03 (P ≤ 0,05) affected sextant, including sextants with bleeding 1,62 ± 0,07 vs. 0.65 ± 0 , 03 (P ≤ 0,05) and sextants tartar - 0,17 ± 0,008 vs. 0,10 ± 0,008 (P ≤ 0,05). At age 10 years, 1 month - 15 years, a higher prevalence of signs of periodontal lesion was identified in patients with table of contents in 80,00 ± 12,65% of cases versus 30,00 ± 14,49% (P ≤ 0,05), and prevailed bleeding gums 70,00 ± 14,49% against 20,00 ± 11,83% (p ≤ 0.05), tartar was diagnosed respectively in 30,00 ± 14,49% against 10,00 ± 9,48% (R≥0,05) surveyed.
Digital Article Identifier (DAI):
2207
80037
The Effects of Lipid Emulsion, Magnesium Sulphate and Metoprolol in Amitryptiline-Induced Cardiovascular Toxicity in Rats
Abstract:
Objective: The aim of this study was to evaluate histological, electrical and biochemical effects of metoprolol, lipid emulsion and magnesium sulphate as an alternative method to be used in preventing long QT emergence, that is among the lethal consequences of amitryptiline toxicity. Methods: Thirty Sprague- Dawley male rats were included. Rats were randomly separated into 5 groups. First group was administered saline only while the rest had received amitryptiline 100 mg/kg + saline, 5 mg/kg metoprolol, 20 ml/kg lipid emulsion and 75 mg/kg magnesium sulphate (MgSO4) intraperitoneally. ECG at DI lead, biochemical tests following euthanasia were performed in all groups after 1 hour of administration. Cardiac tissues were removed, sections were prepared and examined. Results: QTc values were significantly shorter in the rest when compared to amitryptiline+ saline group. While lipid emulsion did not affect proBNP and troponin values biochemically as compared to that of the control group, histologically, it was with reduced caspase 3 expression. Though statistically insignificant in the context of biochemical changes, pro-BNP and urea levels were lower in the metoprolol group when compared to controls. Similarly, metoprolol had no statistically significant effect on histological caspase 3 expression in the group that was treated with amitryptiline+metoprolol. On the other hand, there was a statistically significant decrease in Troponin, pro-BNP and urea levels as well as significant decline in histological caspase 3 expression within the MgSO4 group when compared to controls. Conclusion: As still a frequent cause of mortality in emergency units, administration of MgSO4, lipid emulsion and metoprolol might be beneficial in alternative treatment of cardiovascular toxicity caused by tricyclic antidepressant overdose, whether intake would be intentional or accidental.
Digital Article Identifier (DAI):
2206
79784
Comparison of Radiation Dosage and Image Quality: Digital Breast Tomosynthesis vs. Full-Field Digital Mammography
Authors:
Abstract:
Purpose: With increasing concern of individual radiation exposure doses, studies analyzing radiation dosage in breast imaging modalities are required. Aim of this study is to compare radiation dosage and image quality between digital breast tomosynthesis (DBT) and full-field digital mammography (FFDM). Methods and Materials: 303 patients (mean age 52.1 years) who studied DBT and FFDM were retrospectively reviewed. Radiation dosage data were obtained by radiation dosage scoring and monitoring program: Radimetrics (Bayer HealthCare, Whippany, NJ). Entrance dose and mean glandular doses in each breast were obtained in both imaging modalities. To compare the image quality of DBT with two-dimensional synthesized mammogram (2DSM) and FFDM, 5-point scoring of lesion clarity was assessed and the better modality between the two was selected. Interobserver performance was compared with kappa values and diagnostic accuracy was compared using McNemar test. The parameters of radiation dosages (entrance dose, mean glandular dose) and image quality were compared between two modalities by using paired t-test and Wilcoxon rank sum test. Results: For entrance dose and mean glandular doses for each breasts, DBT had lower values compared with FFDM (p-value < 0.0001). Diagnostic accuracy did not have statistical difference, but lesion clarity score was higher in DBT with 2DSM and DBT was chosen as a better modality compared with FFDM. Conclusion: DBT showed lower radiation entrance dose and also lower mean glandular doses to both breasts compared with FFDM. Also, DBT with 2DSM had better image quality than FFDM with similar diagnostic accuracy, suggesting that DBT may have a potential to be performed as an alternative to FFDM.
Digital Article Identifier (DAI):
2205
79678
Family Caregivers' Burden in Providing Care to the Hospitalized Elderly: Findings from Two Hospitals in Kolkata, India
Abstract:
Family caregivers are vital in providing physical and emotional care to the aged. Providing care to aged involves physical as well as psycho-socio-economic challenges, compels the caregiver to fit in manifold roles, feel overburdened; which in turn requires them to change their priorities in life. The study conducted on family caregivers of the hospitalized elderly explores caregiver’s burden using Zarit Burden Scale (ZBS). The data has been collected from two randomly selected Multispecialty Hospitals in Kolkata (India), after obtaining ethical clearance from the Institutional Review Board of both the hospitals. The predictors of burden were also assessed using interview schedules. Among fifty-seven caregivers who participated in the study, caregiver’s burden was identified among thirty respondents with twenty-six having mild to moderate burden and four having moderate to severe burden. Majority of the caregivers were found to be female, reflecting the gendered nature of caregiving. Family caregivers spent more than six hours per day on caregiving, which severely disturbed their work-life including loss of job. The study revealed that the caregivers’ marital status, family structure, academic qualification, occupation and time spent on caregiving are related to family caregivers’ burden. The burden of care giving was accentuated by poor access to information, counseling, and lack of supportive services. The paper concludes by indicating the need for greater state interventions for caregivers.
Digital Article Identifier (DAI):
2204
79170
Contribution of PALB2 and BLM Mutations to Familial Breast Cancer Risk in BRCA1/2 Negative South African Breast Cancer Patients Detected Using High-Resolution Melting Analysis
Abstract:
Women representing high-risk breast cancer families, who tested negative for pathogenic mutations in BRCA1 and BRCA2, are four times more likely to develop breast cancer compared to women in the general population. Sequencing of genes involved in genomic stability and DNA repair led to the identification of novel contributors to familial breast cancer risk. These include BLM and PALB2. Bloom's syndrome is a rare homozygous autosomal recessive chromosomal instability disorder with a high incidence of various types of neoplasia and is associated with breast cancer when in a heterozygous state. PALB2, on the other hand, binds to BRCA2 and together, they partake actively in DNA damage repair. Archived DNA samples of 66 BRCA1/2 negative high-risk breast cancer patients were retrospectively selected based on the presence of an extensive family history of the disease ( > 3 affecteds per family). All coding regions and splice-site boundaries of both genes were screened using High-Resolution Melting Analysis. Samples exhibiting variation were bi-directionally automated Sanger sequenced. The clinical significance of each variant was assessed using various in silico and splice site prediction algorithms. Comprehensive screening identified a total of 11 BLM and 26 PALB2 variants. The variants detected ranged from global to rare and included three novel mutations. Three BLM and two PALB2 likely pathogenic mutations were identified that could account for the disease in these extensive breast cancer families in the absence of BRCA mutations (BLM c.11T > A, p.V4D; BLM c.2603C > T, p.P868L; BLM c.3961G > A, p.V1321I; PALB2 c.421C > T, p.Gln141Ter; PALB2 c.508A > T, p.Arg170Ter). Conclusion: The study confirmed the contribution of pathogenic mutations in BLM and PALB2 to the familial breast cancer burden in South Africa. It explained the presence of the disease in 7.5% of the BRCA1/2 negative families with an extensive family history of breast cancer. Segregation analysis will be performed to confirm the clinical impact of these mutations for each of these families. These results justify the inclusion of both these genes in a comprehensive breast and ovarian next generation sequencing cancer panel and should be screened simultaneously with BRCA1 and BRCA2 as it might explain a significant percentage of familial breast and ovarian cancer in South Africa.
Digital Article Identifier (DAI):
2203
79169
South African Breast Cancer Mutation Spectrum: Pitfalls to Copy Number Variation Detection Using Internationally Designed Multiplex Ligation-Dependent Probe Amplification and Next Generation Sequencing Panels
Abstract:
The National Health Laboratory Services in Bloemfontien has been the diagnostic testing facility for 1830 patients for familial breast cancer since 1997. From the cohort, 540 were comprehensively screened using High-Resolution Melting Analysis or Next Generation Sequencing for the presence of point mutations and/or indels. Approximately 90% of these patients stil remain undiagnosed as they are BRCA1/2 negative. Multiplex ligation-dependent probe amplification was initially added to screen for copy number variation detection, but with the introduction of next generation sequencing in 2017, was substituted and is currently used as a confirmation assay. The aim was to investigate the viability of utilizing internationally designed copy number variation detection assays based on mostly European/Caucasian genomic data for use within a South African context. The multiplex ligation-dependent probe amplification technique is based on the hybridization and subsequent ligation of multiple probes to a targeted exon. The ligated probes are amplified using conventional polymerase chain reaction, followed by fragment analysis by means of capillary electrophoresis. The experimental design of the assay was performed according to the guidelines of MRC-Holland. For BRCA1 (P002-D1) and BRCA2 (P045-B3), both multiplex assays were validated, and results were confirmed using a secondary probe set for each gene. The next generation sequencing technique is based on target amplification via multiplex polymerase chain reaction, where after the amplicons are sequenced parallel on a semiconductor chip. Amplified read counts are visualized as relative copy numbers to determine the median of the absolute values of all pairwise differences. Various experimental parameters such as DNA quality, quantity, and signal intensity or read depth were verified using positive and negative patients previously tested internationally. DNA quality and quantity proved to be the critical factors during the verification of both assays. The quantity influenced the relative copy number frequency directly whereas the quality of the DNA and its salt concentration influenced denaturation consistency in both assays. Multiplex ligation-dependent probe amplification produced false positives due to ligation failure when ligation was inhibited due to a variant present within the ligation site. Next generation sequencing produced false positives due to read dropout when primer sequences did not meet optimal multiplex binding kinetics due to population variants in the primer binding site. The analytical sensitivity and specificity for the South African population have been proven. Verification resulted in repeatable reactions with regards to the detection of relative copy number differences. Both multiplex ligation-dependent probe amplification and next generation sequencing multiplex panels need to be optimized to accommodate South African polymorphisms present within the genetically diverse ethnic groups to reduce the false copy number variation positive rate and increase performance efficiency.
Digital Article Identifier (DAI):
2202
79130
An Unusual Cause of Electrocardiographic Artefact: Patient's Warming Blanket
Abstract:
In electrocardiography, an ECG artefact is used to indicate something that is not heart-made. Although technological advancements have produced monitors with the potential of providing accurate information and reliable heart rate alarms, despite this, interference of the displayed electrocardiogram still occurs. These interferences can be from the various electrical gadgets present in the operating room or electrical signals from other parts of the body. Artefacts may also occur due to poor electrode contact with the body or due to machine malfunction. Knowing these artefacts is of utmost importance so as to avoid unnecessary and unwarranted diagnostic as well as interventional procedures. We report a case of ECG artefacts occurring due to patient warming blanket and its consequences. A 20-year-old male with a preoperative diagnosis of exstrophy epispadias complex was posted for surgery under epidural and general anaesthesia. Just after endotracheal intubation, we observed nonspecific ECG changes on the monitor. At a first glance, the monitor strip revealed broad QRs complexes suggesting a ventricular bigeminal rhythm. Closer analysis revealed these to be artefacts because although the complexes were looking broad on the first glance there was clear presence of normal sinus complexes which were immediately followed by 'broad complexes' or artefacts produced by some device or connection. These broad complexes were labeled as artefacts as they were originating in the absolute refractory period of the previous normal sinus beat. It would be physiologically impossible for the myocardium to depolarize so rapidly as to produce a second QRS complex. A search for the possible reason for the artefacts was made and after deepening the plane of anaesthesia, ruling out any possible electrolyte abnormalities, checking of ECG leads and its connections, changing monitors, checking all other monitoring connections, checking for proper grounding of anaesthesia machine and OT table, we found that after switching off the patient’s warming apparatus the rhythm returned to a normal sinus one and the 'broad complexes' or artefacts disappeared. As misdiagnosis of ECG artefacts may subject patients to unnecessary diagnostic and therapeutic interventions so a thorough knowledge of the patient and monitors allow for a quick interpretation and resolution of the problem.
Digital Article Identifier (DAI):
2201
79121
Tracheal Stenting to Relieve Respiratory Distress in Patient with Advanced Esophageal Malignancy and Its Anaesthetic Management
Abstract:
Background and Objective: Breathing difficulty is most distressing symptom for the patient and their caregivers providing palliative care to individuals with advanced malignancy. It needs to be tackled effectively and sometimes preemptively to provide relief from respiratory obstruction. Interventional procedures like tracheal stenting are becoming increasingly popular as a part of palliation for respiratory symptoms. We present a case of esophageal tumor earlier stented by Gastroenterologist to maintain esophageal patency, but the tumor outgrew to produce tracheal infiltration and thereby causing airway obstruction. Method and Result: 62-year-old man presented with unresectable Carcinoma oesophagus with inability to swallow. A metallic stent was placed by the gastroenterologist, to maintain esophageal patency and enable patient to swallow. Two months later, the patient returned to hospital in emergency with respiratory distress. CT neck and thorax revealed tumor infiltration through posterior tracheal wall. Lower extent of the tumor was till 1 cm above the carina. Airway stenting with Tracheo bronchial stent with Y configuration was planned under general anaesthesia with airway blocks. Superior Laryngeal Nerve Block, Glossopharyngeal block and Trans tracheal infiltration of local anaesthetics were performed. The patient was sedated with Fentanyl, Midazolam and propofol infusion but was breathing spontaneously. Once the rigid bronchoscope was placed inside trachea, breathing was supported with oxygen and sevoflurane. Initially, the trachea was cleared of tumor by coring. After creating space, tracheal stent was positioned and deployed. After stent placement patient was awakened, suctioned and nebulized. His respiratory stridor relieved instantaneously and was shifted to recovery. Conclusion: Airway blocks help in decreasing the incidence and severity of coughing during airway instrumentation thereby help in proper stent placement. They also reduce the requirement of general anaesthetics and hasten the post stenting recovery. Airway stent provided immediate relief to patient from symptoms of respiratory difficulty. Decision for early tracheal stenting may be taken for a select group of patients with high propensity for local spread, thereby avoiding respiratory complications and providing better quality of life in patients with inoperable malignancy.
Digital Article Identifier (DAI):