Search results for: congenital heart disease

Authors: Reza Behmanesh, Mohammad Nasrolahzadeh-Masouleh, Ehsan Khaksar, Saeed Bokaie

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Domestic rabbits (Oryctolagus cuniculus) are an excellent model for cardiovascular research because the size of these animals is more suitable for study and experimentation than smaller animals. One of the most important diagnostic imaging methods is echocardiography, which is used today to evaluate the anatomical and functional cardiovascular system and is one of the most accurate and sensitive non-invasive methods for examining heart disease. Ventricular function indices can be assessed with cardiac imaging techniques. One of these important cardiac parameters is the ejection fraction (EF), which has a valuable place along with other involved parameters. EF is a measure of the percentage of blood that comes out of the heart with each contraction. For this study, 100 adult and young standard domestic rabbits, six months to one year old and of both sexes (50 female and 50 male rabbits) without anesthesia and sedation were used. In this study, the mean EF in domestic rabbits studied in males was 58.753 ± 6.889 and in females, 61.397 ± 6.530, which are comparable to the items mentioned in the valid books and the average size of EF measured in this study; there is no significant difference between this research and other research. There was no significant difference in the percentage of EF between most weight groups, but there was a significant difference (p < 0.05) in weight groups (2161–2320 g and 2481–2640 g). Echocardiographic EF reference values for domestic rabbits (Oryctolagus cuniculus) non-anesthetized are presented, providing reference values for future studies.

Keywords: echocardiography, ejection fraction, rabbit, heart

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Authors: Ratna Farida Soenarto, Anas Alatas, Made Ryan Kharmayani

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Background: Conventional ultrafiltration (CUF) system was shown to be helpful in reducing anti-inflammatory mediators for patients who underwent open heart surgery. Additionally, modified ultrafiltration (MUF) has been shown to reduce anti-inflammatory mediators further while reducing interstitial fluid volume at the same time. However, there has been minimal data concerning the efficacy of combining both ultrafiltration methods. This study aims to compare inflammation marker, vascular resistance, and cardiac index on CUF+MUF patients with CUF only patients undergoing open heart surgery. Method: This is a single blind randomized controlled trial on patients undergoing open heart surgery between June 2021 - October 2021 in CiptoMangunkusumo National Referral Hospital and Jakarta Heart Hospital. Patients wererandomized using block randomization into modified ultrafiltration following conventional ultrafiltration (CUF+MUF) and conventional ultrafiltration (CUF) only. Outcome assessed in this study were 24-hoursinterleukin-6 levels, systemic vascular resistance (SVR), pulmonary vascular resistance (PVR), and cardiac index. Results: A total of 38patients were included (19 CUF+MUF and 19 CUF subjects). There was no difference in postoperative IL-6 level between groups (p > 0.05).No difference in PVR was observed between groups.Higher difference in SVR was observed in CUF+MUF group (-646 vs. -261dyn/s/cm-5, p < 0.05). Higher cardiac index was observed on CUF+MUF group (0.93 vs. 0.48, p < 0.05). Conclusion: Patients undergoing open heart surgery with modified ultrafiltration following conventional ultrafiltration had similar systemic inflammatory response and better cardiac response than those having conventional ultrafiltration.

Keywords: open-heart, CUF, MUF, SVR, PVR, IL-6

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Authors: W. Soufi, F. Boukli Hacene, S. Ghalem

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Alzheimer's disease (AD) is a neurodegenerative disease that leads to a progressive and permanent deterioration of nerve cells. This disease is progressively accompanied by an intellectual deterioration leading to psychological manifestations and behavioral disorders that lead to a loss of autonomy. It is the most frequent of degenerative dementia. Alzheimer's disease (AD), which affects a growing number of people, has become a major public health problem in a few years. In the context of the study of the mechanisms governing the evolution of AD disease, we have found that natural flavonoids are good acetylcholinesterase inhibitors that reduce the rate of ßA secretion in neurons. This work is to study the inhibition of acetylcholinesterase (AChE) which is an enzyme involved in Alzheimer's disease, by methods of molecular modeling. These results will probably help in the development of an effective therapeutic tool in the fight against the development of Alzheimer's disease. Our goal of the research is to study the inhibition of acetylcholinesterase (AChE) by molecular modeling methods.

Keywords: Alzheimer's disease, acetylcholinesterase, flavonoids, molecular modeling

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Authors: Michael Vieth, Aric Schadler, Hubert Ballard, J. A. Bauer, Pratibha Thakkar

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Introduction: Congenital diaphragmatic hernia (CDH) is a condition characterized by the herniation of abdominal contents into the thoracic cavity requiring postnatal surgical repair. Previous literature suggests improved CDH outcomes at high-volume regional referral centers compared to low-volume centers. The purpose of this study was to examine CDH outcomes at Kentucky Children’s Hospital (KCH), a low-volume center, compared to the Congenital Diaphragmatic Hernia Study Group (CDHSG). Methods: A retrospective chart review was performed at KCH from 2007-2019 for neonates with CDH, and then subdivided into two cohorts: those requiring ECMO therapy and those not requiring ECMO therapy. Basic demographic data and measures of mortality and morbidity including ventilator days and length of stay were compared to the CDHSG. Measures of morbidity for the ECMO cohort including duration of ECMO, clinical bleeding, intracranial hemorrhage, sepsis, need for continuous renal replacement therapy (CRRT), need for sildenafil at discharge, timing of surgical repair, and total ventilator days were collected. Statistical analysis was performed using IBM SPSS Statistics version 28. One-sample t-tests and one-sample Wilcoxon Signed Rank test were utilized as appropriate.Results: There were a total of 27 neonatal patients with CDH at KCH from 2007-2019; 9 of the 27 required ECMO therapy. The birth weight and gestational age were similar between KCH and the CDHSG (2.99 kg vs 2.92 kg, p =0.655; 37.0 weeks vs 37.4 weeks, p =0.51). About half of the patients were inborn in both cohorts (52% vs 56%, p =0.676). KCH cohort had significantly more Caucasian patients (96% vs 55%, p=<0.001). Unadjusted mortality was similar in both groups (KCH 70% vs CDHSG 72%, p =0.857). Using ECMO utilization (KCH 78% vs CDHSG 52%, p =0.118) and need for surgical repair (KCH 95% vs CDHSG 85%, p =0.060) as proxy for severity, both groups’ mortality were comparable. No significant difference was noted for pulmonary outcomes such as average ventilator days (KCH 43.2 vs. CDHSG 17.3, p =0.078) and home oxygen dependency (KCH 44% vs. CDHSG 24%, p =0.108). Average length of hospital stay for patients treated at KCH was similar to CDHSG (64.4 vs 49.2, p=1.000). Conclusion: Our study demonstrates that outcome in CDH patients is independent of center’s case volume status. Management of CDH with a standardized approach in a low-volume center can yield similar outcomes. This data supports the treatment of patients with CDH at low-volume centers as opposed to transferring to higher-volume centers.

Keywords: ECMO, case volume, congenital diaphragmatic hernia, congenital diaphragmatic hernia study group, neonate

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Authors: Viacheslav Sushko, Viktor Sushko

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Pre-cancerous breast diseases are pathological changes that precede the appearance of adenocarcinoma. The most common benign breast disease is mastopathy. We examined the life and disease history of 114 women aged 58-69 who were diagnosed with adenocarcinoma of the breast at different stages of development. They filled out the Reeder Scale to determine the level of stress. The results of the study revealed that 62 of them had mastopathy at the age of 30-45 years old. These women refused surgical treatment for mastopathy. Five to six years before their diagnosis of adenocarcinoma of the mammary gland, 84 women had experienced severe stress (death of a beloved close relative, torture accompanied by rape, prolonged stay in extreme conditions (under bombardment and bombardment). In the assessment of data from completed Reeder scales, 114 women had a high level of mental stress, with a score from 1-1.72. The 84 women who suffered from severe stress showed overeating or a significant decrease in food intake, insomnia, apathy, increased irritability and restlessness, loss of interest in sexual relationships, forgetfulness, difficulty in performing routine work, prolonged uncontrollable headaches, unexplained fatigue, heart pain, reduced capacity for work. In conclusion, it is important to provide psychotherapy for breast cancer patients as the diagnosis, and the different stages of treatment are very stressful. It is also advisable to see a psychiatrist at an early stage and prevent distress and treat precancerous breast disease.

Keywords: breast cancer, distress, mastopathy, severe stress

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Authors: Launcelot McGrath

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The Coronavirus disease 2019 (COVID-19) has spread rapidly around the world, resulting in high mortality rates and very large numbers of people requiring medical treatment in ICU. Management of patient hospitalisation is a critical aspect to control this disease and reduce chaos in the healthcare systems. Remote monitoring provides a solution to protect vulnerable and elderly high-risk patients. Continuous remote monitoring of oxygen saturation, respiratory rate, heart rate, and temperature, etc., provides medical systems with up-to-the-minute information about their patients' statuses. Remote monitoring also limits the spread of infection by reducing hospital overcrowding. This paper examines the potential of remote monitoring for Covid-19 to assist in the rapid identification of patients at risk, facilitate the detection of patient deterioration, and enable early interventions.

Keywords: remote monitoring, patient care, oxygen saturation, Covid-19, hospital management

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Authors: Jonnalagadda Naveen, M. P. S. Tomar, Putluru Satish, Palanisamy Dharani

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Present investigation was carried out on a single specimen of the heart of yellow-bellied sea snake, which accidentally came to the seashore with the fisherman’s net. After the death, these specimens was preserved in 10% neutral buffered formalin and observe for its morphology. The literature cited revealed that meager information was available on the anatomy of the heart of this species of snake thus present study was planned on the gross anatomy of the heart of yellow-bellied sea snake. The heart of yellow-bellied sea snake was located between 28-35th rib in an oblique direction in the pericardial sac. It was three chambered with the complete division of atria but the ventricular cavity was incompletely divided. The apex did not show any gubernaculum cordis. The sinus venosus was the common cavity for confluence of anterior and posterior vana cava and the jugular vein was opened with anterior vena cava. The opening of posterior vena cava was slit-like and it was guarded by membranous valves whereas no valve could be observed at the opening of anterior vana cava and the jugular vein. Both the caval veins ran along the right border of the heart. Pulmonary vein was single which later divided into two branches. The length-width index for the atria was 1.33 whereas it was 1.67 for the ventricle. The atrioventricular canal was situated slightly towards the left of the midline of the heart and was divided into a right cavum pulmonale and left cavum arteriosum of which the right one was slightly larger and longer than the left. The cavum venosum was present in between the cavum pulmonale and the cavum arteriosum. The Ventricle was elongated triangle muscular compartment with ventrally located apex. Internally the cavity of ventricle was divided into two partial chambers dorsally by a muscular ridge and ventrally by an incomplete inter ventricular septum.

Keywords: aorta, atrium, heart, sea snake, sinus venosus, ventricle

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Authors: Birgit Rasmussen, Thomas Maribo, Bente S. Toft

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BACKGROUND: Cardiac rehabilitation is the standard treatment for ischemic heart disease. Cardiac rehabilitation improves quality of life, reduces mortality and the risk of readmission, and provides patients with valuable knowledge and encouragement from peers and staff. Still, less than half of eligible patients enroll. Face-to-face interventions have the potential to support patients' decision-making and increase enrolment in cardiac rehabilitation. However, we lack knowledge of the content and characteristics of interventions. AIM: The aim was to outline and evaluate the content and characteristics of studies that have reported on face-to-face interventions to encourage enrolment in cardiac rehabilitation in patients with ischemic heart disease. METHOD: This scoping review followed the Joanne Briggs Institute methodology. Based on an a-priori protocol that defined the systematic search criteria, six databases were searched for studies published between 2001 and 2023. Two reviewers independently screened and selected studies. All authors discussed the summarized data prior to the narrative presentation. RESULTS: After screening and full text review of 5583 records, 20 studies of heterogeneous design and content were included. Four studies described the key contents in face-to-face interventions to be education, support of autonomy, addressing reasons for change, and emotional and cognitive support while showing understanding. Two studies used motivational interviewing to target patients' experiences and address worries and anticipated difficulties. Four quantitative studies found associations between enrolment and intention to attend, cardiac rehabilitation barriers, exercise self-efficacy, and perceived control. When patients asked questions, enrolment rates were higher, while providing reassurance and optimism could lead to non-attendance if patients had a high degree of worry. In qualitative studies, support to overcome barriers and knowledge about health benefits from participation in cardiac rehabilitation facilitated enrolment. Feeling reassured that the cardiac condition was good could lead to non-attendance. DISCUSSION AND CONCLUSION: To support patients' enrolment in cardiac rehabilitation, it is recommended that interventions integrate a person-centered dialogue. Individual worries and barriers to cardiac rehabilitation should be jointly explored. When talking with patients for whom worries predominate, the recommendation is to focus on the patients' perspectives and avoid too much focus on reassurance and problem-solving. The patients' perspectives, the mechanisms of change, and the process evaluation of the intervention including person-centeredness are relevant to include in future studies.

Keywords: ischemic heart disease, cardiac rehabilitation, enrolment, person-centered, in-hospital interventions

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Authors: Rohit Sane, Snehal Dongre, Pravin Ghadigaonkar, Rahul Mandole

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The present study was designed to evaluate efficacy of heart failure reversal therapy (HFRT) that uses herbal procedure (panchakarma) and allied therapies, in chronic heart failure (CHF) patients with low ejection fraction. Methods: This efficacy study was conducted in CHF patients (aged: 25-65 years, ejection fraction (EF) < 30%) wherein HFRT (60-75 minutes) consisting of snehana (external oleation), swedana (passive heat therapy), hrudaydhara(concoction dripping treatment) and basti(enema) was administered twice daily for 7 days. During this therapy and next 30 days, patients followed the study dinarcharya and were prescribed ARJ kadha in addition to their conventional treatment. The primary endpoint of this study was evaluation of maximum aerobic capacity uptake (MAC) as assessed by 6-minute walk distance (6MWD) using Cahalins equation from baseline, at end of 7 day treatment, follow-up after 30 days and 90 days. EF was assessed by 2D Echo at baseline and after 30 days of follow-up. Results: CHF patients with < 30% EF (N=52, mean [SD] age: 58.8 [10.8], 85% men) were enrolled in the study. There was a 100% compliance to study therapy. A significant improvement was observed in MAC levels (7.11%, p =0.029), at end of 7 day therapy as compared to baseline. This improvement was maintained at two follow-up visits. Moreover, ejection fraction was observed to be increased by 6.38%, p=0,012 as compared to baseline at day 7 of the therapy. Conclusions: This 90 day follow up study highlights benefit of HFRT, as a part of maintenance treatment for CHF patients with reduced ejection fraction.

Keywords: chronic heart failure, functional capacity, heart failure reversal therapy, oxygen uptake, panchakarma

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Authors: Zakirul Islam, Yugo Kumokawa, Quoc Thinh Tran, Motoki Kubo

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Clubroot is a disease of cruciferous plant caused by soil born pathogen Plasmodiophora brassicae and can significantly limit the production through rapid spreading. The present study was designed to investigate the effect of cultivation practices (chemical and organic soils) on clubroot disease development in Brassica rapa. Disease index and root bacterial composition were investigated for both chemical and organic soils. The bacterial biomass and diversity in organic soil were higher than those in chemical soil. Disease severity was distinct for two different cultivation methods. The number of endophytic bacteria decreased in the infected root for both soils. The increased number of endophytic bacterial number led to reduce the proliferation of pathogen spore inside the root and thus reduced the disease severity in organic plants.

Keywords: clubroot disease, bacterial biomass, root infection, disease index, chemical cultivation, organic cultivation

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Authors: Fathia Ehmouda Zaid, Reim Abudelnbi

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Cardiovascular disease is a major cause of morbidity and mortality in patients with systemic lupus erythematosus (SLE). Patients and method: Cross-section study (68) patients diagnosed as systemic lupus erythematosus (SLE), who visited the outpatient clinic of rheumatology, these patients were interviewed with a structured questionnaire about their past and current clinically for presence of Cardiovascular disease in systemic lupus and use SLEDAI, specific tests [ECG –ECHO –CXRAY] the data are analyzed statistically by Pearson's correlation coefficient was calculated and statistical significance was defined as P< 0.05,during period (2013-2014). Objective: Estimation Cardiovascular disease manifestation of systemic lupus erythematosus, correlation with disease activity, morbidity, and mortality. Result: (68) Patients diagnosed as systemic lupus erythematosus' age range from (18-48 years), M=(13±29Y), Sex were female 66/68 (97.1%), male 2/68 (2.9%),duration of disease range[1-15year], M =[7±8y], we found Cardiovascular disease manifestation of systemic lupus erythematosus 32/68 (47.1%), correlation with disease activity use SLEDAI,(r= 476** p=0.000),Morbidity,(r= .554**; p=0.000) and mortality (r=.181; p=.139), Cardiovascular disease manifestations of systemic lupus erythematosus are pericarditis 8/68 (11.8%), pericardial effusion 6/68 (8.8%), myocarditis 4/68 (5.9 %), valvular lesions (endocarditis) 1/68 (1.5%), pulmonary hypertension (PAH) 12/68 (17.6%), coronary artery disease 1/68 (1.5%), none of patients have conduction abnormalities involvement. Correlation with disease activity use SLEDAI, pericarditis (r= .210, p=.086), pericardial effusion (r= 0.079, p=.520), myocarditis (r= 272*, p=.027), valvular lesions (endocarditis) (r= .112, p= .362), pulmonary hypertension (PAH) (r= .257*, p=.035) and coronary artery disease (r=.075, p=.544) correlation between cardiovascular disease manifestations of systemic lupus erythematosus and specific organ involvement we found Mucocutaneous (r=.091 p= .459), musculoskeletal (MSK) (r=.110 p=.373), Renal disease (r=.278*, p=.022), neurologic disease (r=.085, p=.489) and Hematologic disease (r=-.264*, p=.030). Conclusion: Cardiovascular manifestation is more frequent symptoms with systemic lupus erythematosus (SLE) is 47 % correlation with disease activity and morbidity but not with mortality. Recommendations: Focus research to evaluation and an adequate assessment of cardiovascular complications on the morbidity and mortality of the patients with SLE are still required.

Keywords: cardiovascular disease, systemic lupus erythematosus, disease activity, mortality

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Authors: Mecheri Zeid Belmecheri, Maamar Ahfir, Izzet Kale

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Automatic cardiac auscultation is still a subject of research in order to establish an objective diagnosis. Recorded heart sounds as Phonocardiogram signals (PCG) can be used for automatic segmentation into components that have clinical meanings. These are the first sound, S1, the second sound, S2, and the systolic and diastolic components, respectively. In this paper, an automatic method is proposed for the robust segmentation of heart sounds. This method is based on calculating an intermediate sawtooth-shaped signal from the length variation of the recorded Phonocardiogram (PCG) signal in the time domain and, using its positive derivative function that is a binary signal in training a Recurrent Neural Network (RNN). Results obtained in the context of a large database of recorded PCGs with their simultaneously recorded ElectroCardioGrams (ECGs) from different patients in clinical settings, including normal and abnormal subjects, show a segmentation testing performance average of 76 % sensitivity and 94 % specificity.

Keywords: heart sounds, PCG segmentation, event detection, recurrent neural networks, PCG curve length

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Authors: Berrin Şentürk

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In this study, due to the recurrence of bovine tuberculosis, in the same areas, the risk factors for the disease were determined and evaluated at the local level. This study was carried out in 32 farms where the disease was detected in the district and center of Samsun province in 2014. Predetermined risk factors, such as farm, environmental and economic risks, were investigated with the survey method. It was predetermined that risks in the three groups are similar to the risk variables of the disease on the global scale. These risk factors that increase the susceptibility of the infection must be understood by the herd owners. The risk-based contagious disease management system approach should be applied for bovine tuberculosis by farmers, animal health professionals and public and private sector decision makers.

Keywords: bovine tuberculosis, disease management, control, outbreak, risk analysis

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Authors: B. B. Siswanto, A. Halimi, K. M. H. J. Tandayu, C. Abdillah, F. Nanda , E. Chandra

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Nowadays, modern cardiac biomarkers, such as ST2 and NT-proBNP, have important roles in predicting morbidity and mortality in heart failure patients. Abnormalities of serum electrolytes, sepsis or infection, and deteriorating renal function will worsen the conditions of patients with heart failure. It is intriguing to know whether cardiac biomarkers elevations are affected by laboratory findings in heart failure patients. We recruited 65 patients from the heart failure clinic in NCVC Harapan Kita in 2014-2015. All of them have consented for laboratory examination, including cardiac biomarkers. The findings were recorded in our Research and Development Centre and analyzed using linear regression to find whether there is a relationship between laboratory findings (sodium, potassium, creatinine, and leukocytes) and ST2 or NT-proBNP. From 65 patients, 26.9% of them are female, and 73.1% are male, 69.4% patients classified as NYHA I-II and 31.6% as NYHA III-IV. The mean age is 55.7+11.4 years old; mean sodium level is 136.1+6.5 mmol/l; mean potassium level is 4.7+1.9 mmol/l; mean leukocyte count is 9184.7+3622.4 /ul; mean creatinine level is 1.2+0.5 mg/dl. From linear regression logistics, the relationship between NT-proBNP and sodium level (p<0.001), as well as leukocyte count (p=0.002) are significant, while NT-proBNP and potassium level (p=0.05), as well as creatinine level (p=0.534) are not significant. The relationship between ST2 and sodium level (p=0.501), potassium level (p=0.76), leukocyte level (p=0.897), and creatinine level (p=0.817) are not significant. To conclude, laboratory findings are more sensitive in predicting NT-proBNP elevation than ST2 elevation. Larger studies are needed to prove that NT-proBNP correlation with laboratory findings is more superior than ST2.

Keywords: heart failure, laboratory, NT-proBNP, ST2

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Authors: H. Parameshwar Naik, Shripad Kulkarni

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Powdery mildew is a serious disease among the fungal in high humid areas with varied temperature conditions. In recent days disease becomes very severe due to uncertain weather conditions and unique character of the disease is, it produces white mycelia growth on upper and lower leaf surfaces and in severe conditions it leads to defoliation. Results of the experiment revealed that sowing of crop in the I fortnight (FN) of July recorded the minimum mean disease severity (7.96 %) followed by crop sown in II FN of July (13.19 %) as against the crop sown in II FN of August (41.44 %) and I FN of September (33.78 %) and the I fortnight of October (33.77 %). In the first date of sowing infection started at 45 DAS and progressed till 73 DAS and it was up to 14.66 Percent and in second date of sowing disease progressed up to 22.66 percent and in the third date of sowing, it was up to 59.35 percent. Afterward, the disease started earlier and progressed up to 66.15 percent and in sixth and seventh date of sowing disease progressed up to 43.15 percent and 59.85 percent respectively. Disease progress is very fast after 45 days after sowing and highest disease incidence was noticed at 73 DAS irrespective of dates of sowing. From the results of the present study, it is very clear that disease development will be very high if crop sown in between 1st fortnight of August and the 1st fortnight of September.

Keywords: cucumber, India, Karnataka, powdery mildew

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Authors: Dara Kutsyk, Olga Bondarenko, Mariya Sorochka

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In 21-century type 2 diabetes (T2D) has become a global health and social problem in the whole world. The goal of treatment for patients with T2D is to prevent complications of diabetes - macrovascular diseases (heart disease, stroke, and peripheral vascular disease) and microvascular diseases (retinopathy, neuropathy and nephropathy). Nitric oxide (NO) plays an important role in maintaining vascular homeostasis. Loss of NO function is one of the earliest indicators of disease and its progression especially in patients with T2D. Aim: To compare NO level between patients with well and bad controlled glycemia in T2D. Methods: The study included 32 patients with T2D. The diagnosis of T2D was confirmed due to International Diabetes Federation (IDF) criteria 2015. Patients were divided into two groups: with well controlled glycaemia (HbA1c < 7%) and bad controlled glycaemia (HbA1c > 7%). The control group consists of 15 healthy subjects. Results: NO level in patients with T2D is significantly higher (27,2 ±3,1 µmol), compared to controls (18,86±0,9 µmol; p < 0,001). A significant difference in NO level was found between patients with bad controlled glycaemia (25,9±2,2 µmol) and well controlled glycaemia (28,7 ± 3,0 µmol; p<0,01). The study showed a moderate negative correlation between NO level and HbA1c (-0,399; р< 0,05). Conclusions: Production of NO is impaired in patients with T2D, especially with badly controlled glycaemia. With the increase in HbAc serum NO decreases. This can be the main target for prevention vascular complication in T2D.

Keywords: type 2 diabetes, glycated hemoglobin, nitric oxide, Diabetes mellitus

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Authors: Nouha Bouayed Abdelmoula, Rim Louati, Nawel Abdellaoui, Balkiss Abdelmoula, Oldez Kaabi, Walid Smaoui, Samir Aloulou

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Background and Aims: Cardiofaciocutaneous syndrome (CFC) is an autosomal dominant disorder with the vast majority of cases arising by a new mutation of BRAF, MEK1, MEK2, or rarely, KRAS genes. Here, we report a rare Tunisian case of CFC syndrome for whom we identify SOS1 mutation. Methods: Genomic DNA was obtained from peripheral blood collected in an EDTA tube and extracted from leukocytes using the phenol/chloroform method according to standard protocols. High resolution melting (HRM) analysis for screening of mutations in the entire coding sequence of PTPN11 was conducted first. Then, HRM assays to look for hot spot mutations coding regions of the other genes of the RAS-MAPK pathway (RAt Sarcoma viral oncogene homolog Mitogen-Activated Protein Kinases Pathway): SOS1, SHOC2, KRAS, RAF1, KRAS, NRAS, CBL, BRAF, MEK1, MEK2, HRAS, and RIT1, were applied. Results: Heterozygous SOS1 point mutation clustered in exon 10, which encodes for the PH domain of SOS1, was identified: c.1655 G > A. The patient was a 9-year-old female born from a consanguineous couple. She exhibited pulmonic valvular stenosis as congenital heart disease. She had facial features and other malformations of Noonan syndrome, including macrocephaly, hypertelorism, ptosis, downslanting palpebral fissures, sparse eyebrows, a short and broad nose with upturned tip, low-set ears, high forehead commonly associated with bitemporal narrowing and prominent supraorbital ridges, short and/or webbed neck and short stature. However, the phenotype is also suggestive of CFC syndrome with the presence of more severe ectodermal abnormalities, including curly hair, keloid scars, hyperkeratotic skin, deep plantar creases, and delayed permanent dentition with agenesis of the right maxillary first molar. Moreover, the familial history of the patient revealed recurrent brain malignancies in the paternal family and epileptic disease in the maternal family. Conclusions: This case report of an overlapping RASopathy associated with SOS1 mutation and familial history of brain tumorigenesis is exceptional. The evidence suggests that RASopathies are truly cancer-prone syndromes, but the magnitude of the cancer risk and the types of cancer partially overlap.

Keywords: cardiofaciocutaneous syndrome, CFC, SOS1, brain cancer, germline mutation

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Authors: Chander Shekhar, Jeetendra Yadav, Shaziya Allarakha

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Hypertension has been described as an 'iceberg disease' as those who suffered are ignored and hence usually seek healthcare services at a very late stage. It is estimated that more than 2 million Indians are suffering from hypertensive heart disease that contributed to above 0.13 million deaths in 2016. The paper study aims to know the prevalence of Hypertension in India and its variation by socioeconomic backgrounds and to find out risk factors discriminating hypertension with special emphasis on consumption of tobacco and alcohol among men aged 15-54 years in India. The paper uses NFHS (2015-16) data. The paper used binary logistic regression and discriminant analysis to find significant predictors and discriminants of interest. The prevalence of hypertension was 16.5% in the study population. The results suggest that consumption of alcohol and tobacco are significant discriminant characteristics in carrying hypertension irrespective of what socioeconomic background characteristic he possesses.

Keywords: hypertention, alcohol, tobacco, discriminant

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Authors: Amani Ashari, Julia Omar, Arif Hashim, Shahrul Hamid

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Apolipoprotein E (APOE) gene polymorphism has influence on serum lipids which relates to cardiovascular risk. The purpose of this study was to determine the frequency distribution of APOE alleles among Malaysian Type 2 Diabetes Mellitus (DM) patients with and without coronary artery disease (CAD) and their association with serum lipid profiles. A total of 115 patients were recruited in which 78 patients had Type 2 DM without CAD and 37 patients had Type 2 DM with CAD. The APOE polymorphism was detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The APOE ɛ3 allele was the most common one in both groups. There was no significant association between the APOE genotypes and the CAD status in Type 2 DM using Pearson χ² test. Further analysis indicated there were no significant differences in all lipid parameters between E2, E3 and E4 subgroups in both groups. The study showed that the E4 allele carriers of Type 2 DM with CAD patients had higher LDL-C level and lower HDL-C level compared to the other allele carriers. However, analyses showed these levels were not statistically different. The study also showed that the Type 2 DM with CAD group with E2 allele had higher triglyceride (TG). In conclusion, further study with larger sample size is needed to confirm role of E4 as a marker of CAD among Type 2 DM patients in Malaysian population.

Keywords: Apolipoprotein E, diabetes mellitus, cardiovascular disease, lipids

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Authors: Shirin Sarejloo

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Background: Electrophysiological-related manifestation of COVID-19 is a matter of debate in the literature nowadays. A wide spectrum of arrhythmias was observed among patients who have been infected with COVID-19. Objectives: This study discussed the prevalence of arrhythmias and conduction system disease in patients with COVID-19. Method: In this retrospective study, demographic and electrocardiographic data of 432 expired COVID-19 patients who had been admitted to Faghihi Hospital of Shiraz University of Medical Sciences from August2020 until December 2020 were reviewed. Results: Atrioventricular nodal block (AVB) was found in 40(9.3%) patients. Furthermore, 28(6.5%) of them suffered from the first degree of AVB, and 12(2.8%) suffered from complete heart block (CHB). Among 189 cases (59.0%), ST-T changes agreed with myocardial infarction or localized myocarditis. Findings of myocardial injury, including fragmented QRS and prolonged QTc were observed among 91 (21.1%) and 28 (6.5%), respectively. In victims of COVID-19, conduction disease was not related to any comorbidities. Fragmented QRS, axis deviation, presence of S1Q3T3, and poor R wave progression were significantly related to conduction system abnormalities in victims of COVID-19 (P-value > 0.05). Conclusion: Our findings can serve in future studies that aim to develop a risk stratification method for susceptible COVID-19 patients. The myocardial injury appears to role significantly in COVID-19 morbidity and mortality. Consequently, we recommend health policymakers consider separate catheterization laboratories that provide service only to COVID-19 patients.

Keywords: COVID-19, conduction system, ECG, atrioventricular block

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Authors: Samantha A. Cintron, Janet Pierce, Mihaela E. Sardiu, Diane Mahoney, Jill Peltzer, Bhanu Gupta, Qiuhua Shen

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High output heart failure (HOHF) is characterized a high output state resulting from an underlying disease process and is commonly caused by obesity. As obesity levels increase, more individuals will be at risk for obesity-related HOHF. However, the underlying pathophysiologic mechanisms of obesity-related HOHF are not well understood and need further research. The aim of the study was to describe the differences in leukocyte transcriptomes of morbidly obese patients with HOHF and those with non-HOHF. In this cross-sectional study, the study team collected blood samples, demographics, and clinical data of six patients with morbid obesity and HOHF and six patients with morbid obesity and non-HOHF. The study team isolated the peripheral blood leukocyte RNA and applied stranded total RNA sequencing. Differential gene expression was calculated, and Ingenuity Pathway Analysis software was used to interpret the canonical pathways, functional changes, upstream regulators, and mechanistic and causal networks that were associated with the significantly different leukocyte transcriptomes. The study team identified 116 differentially expressed genes; 114 were upregulated, and 2 were downregulated in the HOHF group (Benjamini-Hochberg adjusted p-value ≤ 0.05 and log2(fold-change) of ±1). The differentially expressed genes were involved with cell proliferation, mitochondrial function, erythropoiesis, erythrocyte stability, and apoptosis. The top upregulated canonical pathways associated with differentially expressed genes were autophagy, adenosine monophosphate-activated protein kinase signaling, and senescence pathways. Upstream regulator GATA Binding Protein 1 (GATA1) and a network associated with nuclear factor kappa-light chain-enhancer of activated B cells (NF-kB) were also identified based on the different leukocyte transcriptomes of morbidly obese patients with HOHF and non-HOHF. To the author’s best knowledge, this is the first study that reported the differential gene expression in patients with obesity-related HOHF and demonstrated the unique pathophysiologic mechanisms underlying the disease. Further research is needed to determine the role of cellular function and maintenance, inflammation, and iron homeostasis in obesity-related HOHF.

Keywords: cardiac output, heart failure, obesity, transcriptomics

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Authors: Agi Sunday

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A descriptive analysis of reported cases of sickle cell disease and the level of awareness about genetic counselling in 30 hospitals were carried out. Additionally, 150 individuals between ages 16-45 were randomly selected for evaluation of genetic counselling awareness. The main tools for this study were questionnaires which were taken to hospitals, and individuals completed the others. The numbers of reported cases of sickle cell disease recorded in private, public and teaching hospitals were 14 and 57; 143 and 89; 272 and 57 for the periods of 1995-2000 and 2001-2005, respectively. A general informal genetic counselling took place mostly in the hospitals visited. 122 (86%) individuals had the knowledge of genetic disease and only 43 (30.3%) individuals have been exposed to genetic counselling. 64% of individuals agreed that genetic counselling would help in the prevention of genetic disease.

Keywords: sickle disease, genetic counseling, genetic testing, advocacy

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Authors: David C. Boettiger, Tracy Kuo Lin, Maram Almansour, Mariam M. Hamza, Reem Alsukait, Christopher H. Herbst, Nada Altheyab, Ayman Afghani, Faisal Kattan

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Background The number of people aged greater than 65 years per 100 people aged 20–64 years is expected to almost double in The Kingdom of Saudi Arabia (KSA) between 2020 and 2030. We therefore aimed to quantify the growing non-communicable disease (NCD) burden in KSA between 2020 and 2030, and the impact this will have on the national health budget. Methods Ten priority NCDs were selected: ischemic heart disease, stroke, type 2 diabetes, chronic obstructive pulmonary disease, chronic kidney disease, dementia, depression, osteoarthritis, colorectal cancer, and breast cancer. Age- and sex-specific prevalence was projected for each priority NCD between 2020 and 2030. Treatment coverage rates were applied to the projected prevalence estimates to calculate the number of patients incurring treatment costs for each condition. For each priority NCD, the average cost-of-illness was estimated based on published literature. The impact of changes to our base-case model in terms of assumed disease prevalence, treatment coverage, and costs of care, coming into effect from 2023 onwards, were explored. Results The prevalence estimates for colorectal cancer and stroke were estimated to almost double between 2020 and 2030 (97% and 88% increase, respectively). The only priority NCD prevalence projected to increase by less than 60% between 2020 and 2030 was for depression (22% increase). It is estimated that the total cost of managing priority NCDs in KSA will increase from USD 19.8 billion in 2020 to USD 32.4 billion in 2030 (an increase of USD 12.6 billion or 63%). The largest USD value increases were projected for osteoarthritis (USD 4.3 billion), diabetes (USD 2.4 billion), and dementia (USD 1.9 billion). In scenario analyses, our 2030 projection for the total cost of managing priority NCDs varied between USD 29.2 billion - USD 35.7 billion. Conclusions Managing the growing NCD burden in KSA’s aging population will require substantial healthcare spending increases over the coming years.

Keywords: aging, non communicable disease, costs, Saudi Arabia

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Authors: Mohammed Alenezy

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The function of cardiac motion can be used as an indicator of the heart abnormality by evaluating longitudinal, circumferential, and Radial Strain of the left ventricle. In this paper, the Radial Strain and SR is studied using tagged MRI (tMRI) data during the cardiac cycle on the mid-ventricle level of the left ventricle. Materials and methods: The short-axis view of the left ventricle of five healthy human (three males and two females) and four healthy male rats were imaged using tagged magnetic resonance imaging (tMRI) technique covering the whole cardiac cycle on the mid-ventricle level. Images were processed using Image J software to calculate the left ventricle wall Radial Strain and radial SR. The left ventricle Radial Strain and radial SR were calculated at the mid-ventricular level during the cardiac cycle. The peak Radial Strain for the human and rat heart was 40.7±1.44, and 46.8±0.68 respectively, and it occurs at 40% of the cardiac cycle for both human and rat heart. The peak diastolic and systolic radial SR for human heart was -1.78 s-1 ± 0.02 s-1 and 1.10±0.08 s-1 respectively, while for rat heart it was -5.16± 0.23s-1 and 4.25±0.02 s-1 respectively. Conclusion: This results show the ability of the tMRI data to characterize the cardiac motion during the cardiac cycle including diastolic and systolic phases which can be used as an indicator of the cardiac dysfunction by estimating the left ventricle Radial Strain and radial SR at different locations of the cardiac tissue. This study approves the validity of the tagged MRI data to describe accurately the cardiac radial motion.

Keywords: left ventricle, radial strain, tagged MRI, cardiac cycle

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Authors: Ayesha Siddiqua

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Background: Hypertension is a silent killer disease and a common risk factor for considerable morbidity and mortality. Its effects can be seen on the organs like Heart; Brain; Kidneys. In Saudi Arabia, hypertension affects a sizeable enough proportion of the population, with a prevalence of 27.9% in urban and 22.4 in rural population. Despite these features, the magnitude and epidemiological characteristics of this disease have been rarely studied in Saudi Arabia. To fill this gap, we conducted a survey in Abha to study the KAP of hypertension. KAP study shows what people know about certain things, their feelings and behavior towards the disease management. An improvement in the Knowledge and Attitudes towards disease management can reform the kinds of practices which are followed. Objectives: To assess the level of Knowledge, Attitude and Practice of patients who suffer from Hypertension. To improve the Quality of life of patients. Methods: A prospective cross-sectional survey was conducted on a sample size of 130 Hypertensive patients of both the genders enrolled by simple random sampling technique admitted in the Aseer Central Hospital of Abha during the period from October 2016 to December 2016. Results: Altogether 130 hypertensive patients were enrolled in this study with equal no. of Males and Females. Most of the respondents were aged between 18-40 years (45%). On assessing the KAP of the patients, we found that the Knowledge and Attitude score was good but the Practice scores were moderate in both the genders. Conclusion: Our study concludes that a significant proportion of hypertensive patients show less Practice towards the disease management which can lead to severe complications in time being and also result in damage of other vital organs. So there is a need of intense educational intervention for the patients which can be done by Patient counselling by the clinical pharmacist. Strategies to modify lifestyle which help in control of hypertension can include providing leaflets as well as direct educational programs.

Keywords: Attitude, hypertension, Knowledge, practices

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Authors: Shraddha Gopal, Jayam Lazarus

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Aims: To study the referral practice and impact of DAT-scan in the diagnosis or exclusion of Parkinson’s disease. Settings and Designs: A retrospective study Materials and methods: A retrospective study of the results of 60 patients who were referred for a DAT scan over a period of 2 years from the Department of Neurology at Northern Lincolnshire and Goole NHS trust. The reason for DAT scan referral was noted under 5 categories against Parkinson’s disease; drug-induced Parkinson’s, essential tremors, diagnostic dilemma, not responding to Parkinson’s treatment, and others. We assessed the number of patients who were diagnosed with Parkinson’s disease against the number of patients in whom Parkinson’s disease was excluded or an alternative diagnosis was made. Statistical methods: Microsoft Excel was used for data collection and statistical analysis, Results: 30 of the 60 scans were performed to confirm the diagnosis of early Parkinson’s disease, 13 were done to differentiate essential tremors from Parkinsonism, 6 were performed to exclude drug-induced Parkinsonism, 5 were done to look for alternative diagnosis as the patients were not responding to anti-Parkinson medication and 6 indications were outside the recommended guidelines. 55% of cases were confirmed with a diagnosis of Parkinson’s disease. 43.33% had Parkinson’s disease excluded. 33 of the 60 scans showed bilateral abnormalities and confirmed the clinical diagnosis of Parkinson’s disease. Conclusion: DAT scan provides valuable information in confirming Parkinson’s disease in 55% of patients along with excluding the diagnosis in 43.33% of patients aiding an alternative diagnosis.

Keywords: DATSCAN, Parkinson's disease, diagnosis, essential tremors

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Authors: Rosanna Tramutoli

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Studies on several languages have demonstrated how different emotions are categorized in various linguistic constructions. It exists in several writings on the codification of emotions in Western African languages. A recent study on the semantic description of Swahili body terminology has demonstrated that body part terms, such as moyo (heart), uso (face) and jicho (eye) are involved in several metaphorical expressions describing emotions. However, so far hardly anything has been written on the linguistic description of emotions in Swahili. Thus, this study describes how emotional concepts, such as ‘love’ and ‘anger’ are codified in Swahili, in order to highlight common semantic and syntactic patterns, etymological sources and metaphorical expressions. The research seeks to answer a number of questions, such as which are the Swahili terms for ‘emotions’? Is there a distinction between ‘emotions’ and ‘feelings’? Which emotional lexical items have Bantu origin and which come from Arabic? Which metaphorical expressions/cognitive schemas are used to codify emotions? (e.g. kumpanda mtu kichwani, lit. ‘to climb on somebody’s head’, to make somebody feel angry, kushuka moyo, lit. ‘to be down the heart’, to feel discouraged, kumpa mtu moyo lit. ‘to give someone heart’, to encourage someone). Which body terms are involved as ‘containers/locus of emotions’? For instance, it has been shown that moyo (‘heart’) occurs as container of ‘love’ (e.g. kumtia mtu moyoni, lit. ‘to put somebody in the heart’, to love somebody very much) and ‘kindness’ (moyo wake ulijaa hisani, ‘his heart was filled with kindness’). The study also takes into account the syntactic patterns used to code emotions. For instance, when does the experiencer occur in subject position? (e.g. nina furaha, nimefurahi, ‘I am happy’) and when in object position (e.g. Huruma iliniingia moyoni, lit. ‘Pity entered me inside my heart’, ‘I felt pity’)? Data have been collected mostly through the analysis of Swahili digital corpora, containing different kinds of Swahili texts (e.g. novels, drama, political essays).

Keywords: emotions, cognitive linguistics, metaphors, Swahili

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Authors: Y. Z. Gad

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Disorders of Sex Development (DSD) are defined as congenital conditions in which development of chromosomal, gonadal or anatomical sex is atypical. The DSD are relatively prevalent in Egypt. In spite of that, the relative rarity of the individual disease types or their molecular pathologies frequently resulted in reporting on single or few cases. This augmented the challenging nature of phenotype-genotype correlation in this disease group and its utilization in the management of such medical emergency. Through critical assessment of the published DSD reports, the current review aims at analyzing the clinical characteristics of the various DSD forms in relation to the underlying molecular pathologies. A systematic literature search was done in Pubmed, using relevant keywords (Egypt versus DSD, genital ambiguity or ambiguous genitalia, the old terms of 'intersex, hermaphroditism and pseudohermaphroditism', and a list of the DSD entities and their related genes). The search yielded 24 reports of molecular data in Egyptian patients presenting with ambiguous genitalia. However, only 21 publications fulfilled the criteria of inclusion of detailed clinical descriptions and definitive molecular diagnoses of individual patients. Curation of the data yielded a total of 53 cases that were ascertained from 40 families. Fifty-one patients present with ambiguous genitalia only while 2 had multiple congenital anomalies. Parental consanguinity was noted in 60% of cases. Sex of rearing at initial presentation was female in 75% and 60% in 46,XY and 46,XX DSD cases, respectively. The external genital phenotype in 2/3 of the 46,XY DSD cases showed moderate undermasculinization [Quigley scores 3 & 4] and 1/3 had severe presentations [scores 5 & 6]. For 46,XX subjects, 1 had severe virilization of the external genitalia while 8 had moderate phenotype. Hormonal data were inconclusive or contradictory to final diagnosis in a forth of cases. Collectively, 31 families [31/40, 77.5%] with 46,XY DSD had molecular defects in the genes, 5 alpha reductase 2 (SRD5A2) [12/31], 17 beta-hydroxysteroid dehydrogenase 3 [8/31], androgen receptor [7/31], Steroidogenic factor 1 [2/31], luteinizing hormone receptor [1/31], and fibroblast growth factor receptor 1 [1/31]. In a multiethnic study, 9 families afflicted with 46,XX DSD due to 11 beta hydroxylase (CYP11B1) deficiency were documented. Two recurrent mutations, G34R and N160D, in SRD5A2 were present, respectively, in 42 and 17% of cases. Similarly, 4 recurrent mutations resulted in 89% of the CYP11B1 presentations. In conclusion, this analysis highlights the importance of autosomal recessive inheritance and inbreeding among DSD presentations, the importance of founder effect in at least 2 disorders, the difficulties in relating the genotype with the indeterminate genital phenotype, the under-reporting of some DSD subtypes, and the notion that the reported mutational profiles among Egyptian DSD cases are relatively different from those reported in other ethnic groups.

Keywords: disorders of sex development, genital ambiguity, mutation, molecular diagnosis, Egypt

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Authors: A. Mathieu, B. Aubry, E. Chhim, M. Jobe, M. Arnaud

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Present project consists in a study and a development of piezoelectric devices for supplying power to new generation pacemakers. They are miniaturized leadless implants without battery placed directly in right ventricle. Amongst different acceptable energy sources in cardiac environment, we choose the solution of a device based on conversion of the energy produced by pressure variation inside the heart into electrical energy. The proposed energy harvesters can meet the power requirements of pacemakers, and can be a good solution to solve the problem of regular surgical operation. With further development, proposed device should provide enough energy to allow pacemakers autonomy, and could be good candidate for next pacemaker generation.

Keywords: energy harvester, heart, leadless pacemaker, piezoelectric cells, pressure variation

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Authors: Jane E. A. Lewis, Paul Williams, Jane H. Davies

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Introduction: There is, at present, a clear and recognized need to optimize the diagnosis of peripheral arterial disease (PAD), particularly in non-specialist settings such as primary care, and this arises from several key facts. Firstly, PAD is a highly prevalent condition. In 2010, it was estimated that globally, PAD affected more than 202 million people and furthermore, this prevalence is predicted to further escalate. The disease itself, although frequently asymptomatic, can cause considerable patient suffering with symptoms such as lower limb pain, ulceration, and gangrene which, in worse case scenarios, can necessitate limb amputation. A further and perhaps the most eminent consequence of PAD arises from the fact that it is a manifestation of systemic atherosclerosis and therefore is a powerful predictor of coronary heart disease and cerebrovascular disease. Objective: This cross sectional study aimed to individually and cumulatively compare sensitivity and specificity of the (i) ankle brachial index (ABI) and (ii) pulse volume waveform (PVW) recorded by the same automated device, with the presence or absence of peripheral arterial disease (PAD) being verified by an Ultrasound Duplex Scan (UDS). Methods: Patients (n = 205) referred for lower limb arterial assessment underwent an ABI and PVW measurement using volume plethysmography followed by a UDS. Presence of PAD was recorded for ABI if < 0.9 (noted if > 1.30) if PVW was graded as 2, 3 or 4 or a hemodynamically significant stenosis > 50% with UDS. Outcome measure was agreement between measured ABI and interpretation of the PVW for PAD diagnosis, using UDS as the reference standard. Results: Sensitivity of ABI was 80%, specificity 91%, and overall accuracy 88%. Cohen’s kappa revealed good agreement between ABI and UDS (k = 0.7, p < .001). PVW sensitivity 97%, specificity 81%, overall accuracy 84%, with a good level of agreement between PVW and UDS (k = 0.67, p < .001). The combined sensitivity of ABI and PVW was 100%, specificity 76%, and overall accuracy 85% (k = 0.67, p < .001). Conclusions: Combing these two diagnostic modalities within one device provided a highly accurate method of ruling out PAD. Such a device could be utilized within the primary care environment to reduce the number of unnecessary referrals to secondary care with concomitant cost savings, reduced patient inconvenience, and prioritization of urgent PAD cases.

Keywords: ankle brachial index, peripheral arterial disease, pulse volume waveform, ultrasound duplex scan

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