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https://www.readbyqxmd.com/read/29783273/clinical-and-genetic-features-of-congenital-myasthenic-syndromes-due-to-chat-mutations-case-report-and-literature-review
#1
Pinar Arican, Pinar Gencpinar, Dilek Cavusoglu, Nihal Olgac Dundar
Congenital myasthenic syndromes (CMS) are neuromuscular transmission disorders caused by mutations in genes encoding neuromuscular junction proteins. CMS due to choline acetyltransferase (CHAT) gene is characterized by episodic apnea. We report a case of a 12-month-old female patient presented with recurrent episodic apnea carrying a mutation in CHAT gene, p.I336T. Furthermore, we describe the genetic and clinical findings in 44 CMS patients due to CHAT mutations in the literature up to date. Episodes of apnea and respiratory insufficiency are the hallmarks of CHAT mutations...
May 21, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29783267/-conceptual-approaches-to-the-investigation-of-a-problem-of-professional-training-of-physical-therapists
#2
Anna V Fastivetz, Pavlo V Khomenko, Inna E Shaparenko
OBJECTIVE: Introduction:The level of people's health and its preservation is a medical problem that requires the optimal solution and the need to improve the management of the system of measures to achieve the goal. According to specialists, the health of Ukrainian people is accompanied by high mortality, significant parameters of disability and morbidity and a decrease in the average life expectancy. Diseases that lead to such negative medical and social and socio-economic consequences are so-called "illnesses of a way of life" or "diseases of civilization"...
2018: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/29783261/epidemiology-of-acute-myocardial-infarction-in-ukraine-and-poltava-region
#3
Viacheslav M Zhdan, Grigory А Oksak, Oleh V Radomskyi, Denis I Shaposhnikov
OBJECTIVE: Introduction: The number of elderly people in society is increasing. Alike in all European countries, ageing population in Ukraine is observed, which affects the structure and dynamics of morbidity and mortality of the population towards the increase of chronic non-communicable diseases, which is the epidemic of the 21st century civilization. In 2010 in Ukraine, the proportion of people over the age of 60 was 20.6% of the total. The prevalence of all diseases among the elderly in 2010 amounted to 283522,8, and among the general population - 186746,4...
2018: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/29783224/influence-of-risk-factors-on-insulin-resistance-in-patients-with-overweight-and-obesity
#4
Tetiana Maksymets, Natalia Karpyshyn, Taras Gutor, Helen Sklyarova, Eugen Sklyarov
OBJECTIVE: Introduction: Obesity is a multifactorial, heterogenic disease, associated with an increased risk of morbidity and mortality due to cardiovascular diseases, diabetes, cancer, chronic liver and kidney diseases. Excessive body weight and obesity are serious medical and social problems, since their incidence is constantly increasing and has reached global epidemic proportions. The aim: Determining the influence of risk factors on insulin resistance level in patients with overweight and obesity...
2018: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/29783205/individual-approach-to-the-treatment-of-obese-copd-patients-can-reduce-anthropometric-indicators-the-level-of-systemic-inflammation-and-improve-the-quality-of-life
#5
Lesia V Savchenko, Igor P Kaidashev
OBJECTIVE: Introduction: Chronic obstructive pulmonary disease (COPD) and obesity are major causes of morbidity and mortality worldwide, and according to current estimates, the global burden of these conditions will be even greater. The basis for COPD treatment is bronchodilator therapy and non-pharmacotherapy approaches, such as respiratory rehabilitation and dietary counseling. The aim of this study was to assess the impact of lifestyle modification on anthropometric indices, markers of systemic inflammation, quality of life in patients with COPD and obesity...
2018: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/29783184/postoperative-outcomes-in-patients-with-a-do-not-resuscitate-dnr-order-undergoing-elective-procedures
#6
Ethan Y Brovman, Elisa C Walsh, Brittany N Burton, Christine E Kuo, Charlotta Lindvall, Rodney A Gabriel, Richard D Urman
STUDY OBJECTIVE: Do-not-resuscitate (DNR) status has been shown to be an independent risk factor for mortality in the post-operative period. Patients with DNR orders often undergo elective surgeries to alleviate symptoms and improve quality of life, but there are limited data on outcomes for informed decision making. DESIGN: Retrospective cohort study. SETTING: A multi-institutional setting including operating room, postoperative recovery area, inpatient wards, and the intensive care unit...
May 18, 2018: Journal of Clinical Anesthesia
https://www.readbyqxmd.com/read/29783070/cdh17-alters-mmp-2-expression-via-canonical-nf-%C3%AE%C2%BAb-signalling-in-human-gastric-cancer
#7
Xiao-Jie Jiang, Jing Lin, Qing-He Cai, Jian-Feng Zhao, Hui-Jiao Zhang
Gastric cancer (GC), one of the most common cancers of the digestive system, results in high morbidity and mortality, but the molecular mechanisms underlying GC remain largely unknown. Cadherin-17 (CDH17) is a nonclassical member of the cadherin (CDH) superfamily of calcium-dependent proteins. Despite recent advances in the understanding of CDH17 biology, the mechanism of CDH17 in GC proliferation, migration, and invasion has not been extensively studied. In the present study, we observed that CDH17 expression was increased in GC tissues compared with para-carcinoma tissues and was correlated with lymph node metastasis and the AJCC stage...
May 18, 2018: Gene
https://www.readbyqxmd.com/read/29783016/systematic-investigation-of-the-erigeron-breviscapus-mechanism-for-treating-cerebrovascular-disease
#8
Jiangmei Wang, Yangyang Chen, Baoshi Liu, Qian Wang, Lulu Zhang, Zhenzhong Wang, Jun Zhou, Wei Xiao, Chunli Zheng, Yonghua Wang
ETHNOPHARMACOLOGICAL RELEVANCE: Cerebrovascular diseases (CBVDs), characterized by striking morbidity and mortality, have become the most common life-threatening diseases. The existing drugs of CBVDs target one or a few of pathogenic factors, the efficacy of which is limited because of the complexity of CBVDs. Traditional Chinese medicine (TCM), featured by multi-component and multi-target endows the great effectiveness in CBVDs treatment. For instance, Erigeron breviscapus (vant.) Hand...
May 18, 2018: Journal of Ethnopharmacology
https://www.readbyqxmd.com/read/29782986/antiglycation-study-of-hmg-r-inhibitors-and-tocotrienol-against-glycated-bsa-and-ldl-a-comparative-study
#9
Rabia Nabi, Sahir Sultan Alvi, Rizwan Khan, Shafeeque Ahmad, Saheem Ahmad, M Salman Khan
Non-enzymatic glycation mediated advanced glycation end products (AGEs) generation results in the pathogenesis of diabetic complications and atherosclerotic cardiovascular disease (ASCVD) which is greatly influenced by 3-hydroxy-3-methyl-glutaryl Co-A reductase (HMG-R) activity. HMG-R inhibitors, statins, are well known for reducing mortality and morbidity of ASCVD in patients with diabetes due to their pleiotropic effects independent of cholesterol lowering. Due to distinct chemical structures, various statins may play important role in the inhibition of AGEs mediated pathologies...
May 18, 2018: International Journal of Biological Macromolecules
https://www.readbyqxmd.com/read/29782430/novel-technique-of-distal-roux-en-y-gastric-bypass-for-insufficient-weight-loss-after-primary-procedure-personal-experience-and-primary-results-at-12-months
#10
Theodoros Thomopoulos, Vincent Tomasi, Evangelos Koliakos, Maximilien Thoma, Benoit Navez
PURPOSE: In the literature, up to 20% of patients present a failure of weight loss after primary Roux-en-Y gastric bypass (RYGBP) or other restrictive procedures. Our aim is to describe the midterm results of our novel technique of distal Roux-en-Y gastric bypass (DRYGBP) as a revisional procedure. MATERIALS AND METHODS: We performed our DRYGBP in 30 patients. The length of the common channel was 100 cm, whereas the lengths of the alimentary and the biliopancreatic limbs were 2/3 and 1/3 of the remaining bowel, respectively...
May 18, 2018: Surgical Laparoscopy, Endoscopy & Percutaneous Techniques
https://www.readbyqxmd.com/read/29782251/-time-related-changes-in-prevalence-of-chronic-heart-failure-and-diabetes-mellitus-in-nizhny-novgorod-region-between-2000-and-2017
#11
N Kraiem, D S Polyakov, I V Fomin, N G Vinogradova, F Y Valikulova, A R Vaysberg, Y V Badin, E V Shechrbinina
AIM: To determine time-related changes in prevalence, morbidity, and all-cause mortality of patients with CHF depending on the presence of DM in a representative sample of Nizhny Novgorod Region. MATERIALS AND METHODS: In 1998, a representative sample of Nizhny Novgorod Region was created, which included 1922 respondents. From 2000 through 2017, this sample was evaluated three times. Patients with CHF and DM were studied. RESULTS: For 17 years, prevalence of NYHA FC IV CHF increased from 6...
2018: Kardiologiia
https://www.readbyqxmd.com/read/29782249/-transthyretin-amyloidosis-in-a-cohort-of-old-and-very-old-patients-with-chronic-heart-failure
#12
A A Poliakova, E N Semernin, M Y Sitnikova, K L Аvagyan, R V Grozov, S A Pyko, A N Krutikov, V G Davydova, K A Khmelnitskaya, M M Shavloskii, D E Korzhevskii, A Y Gudkova
BACKGROUND: Life-time diagnostics of wild type transthyretin amyloidosis (ATTR(wt)-amyloidosis) is virtually absent, even though ATTR(wt)-amyloidosis is an underestimated cause for morbidity and mortality, particularly in the older age group. AIM: To study incidence, demographic characteristics, and morpho-functional features of ATTR(wt)-amyloidosis in patients with FC IV CHF and LV hypertrophy > 15 mm according to autopsy data. MATERIALS AND METHODS: Postmortem reports were retrospectively analyzed for patients (n=141; 19 % males, 81 % females) of cardiology departments aged ≥69 with the underlying CHF syndrome...
2018: Kardiologiia
https://www.readbyqxmd.com/read/29782203/extracellular-vesicles-extracted-from-young-donor-serum-attenuate-inflammaging-via-partially-rejuvenating-aged-t-cell-immunotolerance
#13
Weikan Wang, Liefeng Wang, Linhui Ruan, Jiyoung Oh, Xiaowei Dong, Qichuan Zhuge, Dong-Ming Su
Biologic aging results in a chronic inflammatory condition, termed inflammaging, which establishes a risk for such age-related diseases as neurocardiovascular diseases; therefore, it is of great importance to develop rejuvenation strategies that are able to attenuate inflammaging as a means of intervention for age-related diseases. A promising rejuvenation factor that is present in young blood has been found that can make aged neurons younger; however, the component in the young blood and its mechanism of action are poorly elucidated...
May 21, 2018: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/29781990/fetal-mouse-cardiovascular-imaging-using-a-high-frequency-ultrasound-30-45mhz-system
#14
Marlin Touma
Congenital heart defects (CHDs) are the most common cause of childhood morbidity and early mortality. Prenatal detection of the underlying molecular mechanisms of CHDs is crucial for inventing new preventive and therapeutic strategies. Mutant mouse models are powerful tools to discover new mechanisms and environmental stress modifiers that drive cardiac development and their potential alteration in CHDs. However, efforts to establish the causality of these putative contributors have been limited to histological and molecular studies in non-survival animal experiments, in which monitoring the key physiological and hemodynamic parameters is often absent...
May 5, 2018: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/29781841/carbohydrates-and-diet-patterns-in-nonalcoholic-fatty-liver-disease-in-children-and-adolescents
#15
Ahlia Sekkarie, Jean A Welsh, Miriam B Vos
PURPOSE OF REVIEW: The primary treatment for nonalcoholic fatty liver disease (NAFLD) in children is lifestyle change, including a healthier diet. However, there are no agreed upon expert recommendations for a specific diet in the prevention or treatment of NAFLD. In this study, we review studies published between 2015 and 2017 contributing to further understanding of the role of diet in the development and progression of NAFLD, particularly those addressing sugars and dietary patterns...
May 16, 2018: Current Opinion in Clinical Nutrition and Metabolic Care
https://www.readbyqxmd.com/read/29781680/provision-of-antiretroviral-therapy-for-children-in-nelson-mandela-bay-health-care-professionals-challenges
#16
Margaret Williams, Dalena R M Van Rooyen, Esmeralda J Ricks
BACKGROUND:  The human immunodeficiency virus and/or acquired immune deficiency syndrome (HIV/AIDS) pandemic continues to increase in prevalence worldwide, particularly in South Africa, and includes the often overlooked paediatric population. The provision of paediatric antiretroviral treatment (ART) is as essential for children as for adults, and has numerous obstacles, not least of which is lack of decentralisation of facilities to provide essential treatment. Optimising ART, care and support for HIV-positive children, and their caregivers, at public sector primary health care (PHC) clinics is crucial to improve morbidity and mortality rates in children...
March 12, 2018: African Journal of Primary Health Care & Family Medicine
https://www.readbyqxmd.com/read/29781569/pediatric-superior-vena-cava-syndrome-an-evidence-based-systematic-review-of-the-literature
#17
REVIEW
Fadi Nossair, Peter Schoettler, Joanne Starr, Anthony K C Chan, Ivan Kirov, Bosco Paes, Arash Mahajerin
Superior vena cava syndrome (SVCS) results in vascular, respiratory, and neurologic compromise. A systematic search was conducted to determine the prevalence of pediatric SVCS subtypes and identify clinical characteristics/treatment strategies that may influence overall outcomes. Data from 101 case reports/case series (142 patients) were analyzed. Morbidity (30%), mortality (18%), and acute complications (55%) were assessed as outcomes. Thrombosis was present in 36%, with multi-modal anticoagulation showing improved outcome by >50% (P = 0...
May 21, 2018: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/29781540/clinical-significance-of-platelet-to-lymphocyte-ratio-in-women-with-preeclampsia
#18
Min-A Kim, Gwan Hee Han, Ja-Young Kwon, Young-Han Kim
PROBLEM: Preeclampsia (PE) is a serious pregnancy complication leading to high maternal, perinatal morbidity, and mortality. We aimed to investigate the clinical effectiveness of the platelet-to-lymphocyte ratio (PLR) in women with PE and compare this measurement to platelet indices as a diagnostic and prognostic marker of PE. METHOD OF STUDY: A total of 471 healthy pregnant women, 126 women diagnosed with mild PE, and 227 with severe PE were included in this retrospective study...
May 21, 2018: American Journal of Reproductive Immunology: AJRI
https://www.readbyqxmd.com/read/29781531/down-regulation-of-kif2a-inhibits-gastric-cancer-cell-invasion-via-suppressing-mt1-mmp
#19
Peng Zhao, Fei Lan, Hui Zhang, Guangwei Zeng, Dong Liu
Gastric cancer accounts for a sizeable proportion of global cancer mortality with high morbidity and poor prognosis. Kinesin superfamily proteins (KIFs) are microtubule-dependent motor proteins that function as oncogenes in cancer cells, it has been discovered in recent years. Kinesin family member 2a (KIF2A), a member of KIFs, has received attention for its role in carcinogenesis and its prognostic value in several human cancers such as breast cancer, colorectal cancer, and squamous cell carcinoma. However, the role of KIF2A in human gastric cancer remains unknown...
May 21, 2018: Clinical and Experimental Pharmacology & Physiology
https://www.readbyqxmd.com/read/29781417/gender-differences-in-the-association-between-marital-status-and-hypertension-in-ghana
#20
Derek Anamaale Tuoyire, Harold Ayetey
SummaryHypertension is a significant contributor to the global burden of cardiovascular and related target organ diseases such as heart failure, coronary heart disease, stroke and kidney failure, and their associated premature morbidity, mortality and disability. Marital status is an important social characteristic known to predict a range of health outcomes including cardiovascular disease. However, little is known about its impact on hypertension in sub-Saharan Africa. This study explored the relationship between marital status and hypertension among women and men in Ghana...
May 21, 2018: Journal of Biosocial Science
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