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https://www.readbyqxmd.com/read/28551931/-acute-alcohol-intoxication-in-an-eight-weeks-old-infant
#1
Tal Frenkel Rutenberg, Michael Benacun
Alcohol intoxication in infants is a life-threatening condition which requires early diagnosis and treatment. It may lead to multi-system injury, including mental deterioration, respiratory depression, cardiac arrhythmia, metabolic disorders and hypothermia. We present the case of an eight weeks old female infant who was admitted to the pediatric emergency department after ingesting 40 ml of vodka with her baby formula. She was initially apathetic, with blood alcohol levels of 149 mg/dl, yet fully recovered after a short period of time...
March 2017: Harefuah
https://www.readbyqxmd.com/read/28551925/-clinical-characteristics-of-male-patients-with-osteoporosis-referred-to-the-endocrine-clinic-of-a-tertiary-hospital
#2
Gloria Tsvetov, Ilana Shraga-Slutzky, Dania Hirsch, Hiba Masri, Tzippy Shohat, Alexander Gorshtein, Ilan Shimon
INTRODUCTION: Osteoporosis in men is underdiagnosed and undertreated. The prevalence of male osteoporosis increases with age and it becomes a significant public health burden. Currently, there are a few clinical studies on male osteoporosis with limited knowledge of effective therapeutic options. AIMS: Our study aimed to characterize men with osteoporosis in a referral metabolic clinic in Rabin Medical Center at the Beilinson Campus. METHODS: In this study we retrospectively analyzed the medical records of 270 consecutive male patients with osteoporosis diagnosed and treated in our clinic during 2013...
April 2017: Harefuah
https://www.readbyqxmd.com/read/28551920/-women-s-cardiac-health-from-theory-to-activism
#3
REVIEW
Avital Porter
Cardiovascular disease (CVD) is the leading cause of death in the western world, in both genders. Although awareness of the importance of prevention, diagnosis and optimal treatment of CVD has risen in general, most women are not fully aware of their CVD risk. Moreover, women are not alert to the burden of risk in their reproductive years (e.g. complicated pregnancy and/or peri-menopausal period) and their impact on future CVD. Unique Female issues such as: fertile age, menopause, oral contraceptives, hormonal and metabolic disorders during pregnancy, labor, as well as psychological matters, and healthy life-style are major contributors to primary and secondary prevention of CVD...
April 2017: Harefuah
https://www.readbyqxmd.com/read/28551798/mitochondrial-proton-leak-plays-a-critical-role-in-pathogenesis-of-cardiovascular-diseases
#4
Jiali Cheng, Gayani Nanayakkara, Ying Shao, Ramon Cueto, Luqiao Wang, William Y Yang, Ye Tian, Hong Wang, Xiaofeng Yang
Mitochondrial proton leak is the principal mechanism that incompletely couples substrate oxygen to ATP generation. This chapter briefly addresses the recent progress made in understanding the role of proton leak in the pathogenesis of cardiovascular diseases. Majority of the proton conductance is mediated by uncoupling proteins (UCPs) located in the mitochondrial inner membrane. It is evident that the proton leak and reactive oxygen species (ROS) generated from electron transport chain (ETC) in mitochondria are linked to each other...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28551793/mitochondria-in-structural-and-functional-cardiac-remodeling
#5
Natalia Torrealba, Pablo Aranguiz, Camila Alonso, Beverly A Rothermel, Sergio Lavandero
The heart must function continuously as it is responsible for both supplying oxygen and nutrients throughout the entire body, as well as for the transport of waste products to excretory organs. When facing either a physiological or pathological increase in cardiac demand, the heart undergoes structural and functional remodeling as a means of adapting to increased workload. These adaptive responses can include changes in gene expression, protein composition, and structure of sub-cellular organelles involved in energy production and metabolism...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28551791/mitochondrial-mechanosensor-microdomains-in-cardiovascular-disorders
#6
Michele Miragoli, Aderville Cabassi
The cardiomyocytes populating the 'working myocardium' are highly organized and such organization ranges from macroscale (e.g. the geometrical rod shape) to microscale (dyad/t-tubules) domains. This meticulous level of organization is imperative for assuring the normal and physiological pump-function of the heart. In the pathological cardiac tissue, the domains-related architecture is partially lost, resulting in morphological, electrical and metabolic remodeling and promoting cardiovascular diseases including heart failure and arrhythmias...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28551756/extracerebral-dysfunction-in-animal-models-of-autism-spectrum-disorder
#7
Elisa L Hill-Yardin, Sonja J McKeown, Gaia Novarino, Andreas M Grabrucker
Genetic factors might be largely responsible for the development of autism spectrum disorder (ASD) that alone or in combination with specific environmental risk factors trigger the pathology. Multiple mutations identified in ASD patients that impair synaptic function in the central nervous system are well studied in animal models. How these mutations might interact with other risk factors is not fully understood though. Additionally, how systems outside of the brain are altered in the context of ASD is an emerging area of research...
2017: Advances in Anatomy, Embryology, and Cell Biology
https://www.readbyqxmd.com/read/28551695/down-syndrome-increased-risk-of-dementia-and-lipid-disturbances
#8
Anna Kłosowska, Agnieszka Ćwiklińska, Agnieszka Kuchta, Agata Berlińska, Maciej Jankowski, Jolanta Wierzba
Down syndrome (DS) is the most common chromosomal aberration and genetically determined cause of intellectual disability. DS patients often present with some congenital defects and chronic diseases, including early onset dementia, which affects 70% of DS patients over 55 years of age and has a clinical presentation similar to Alzheimer disease (AD). The symptoms of DS originate from excessive genetic material within the "critical region" of the 21st chromosome. The "critical region" encompasses genes potentially associated with increase risk of dementia, e...
2017: Developmental Period Medicine
https://www.readbyqxmd.com/read/28551332/association-between-thyroid-hormones-and-trail
#9
Stella Bernardi, Fleur Bossi, Barbara Toffoli, Fabiola Giudici, Alessandra Bramante, Giulia Furlanis, Elisabetta Stenner, Paola Secchiero, Giorgio Zauli, Renzo Carretta, Bruno Fabris
INTRODUCTION: Recent studies suggest that a circulating protein called TRAIL (TNF-related apoptosis-inducing ligand) might have a role in the regulation of body weight and metabolism. Interestingly, thyroid hormones seem to increase TRAIL tissue expression. This study aimed at evaluating whether overt thyroid disorders affected circulating TRAIL levels. METHODS: TRAIL circulating levels were measured in euthyroid, hyperthyroid, and hypothyroid patients before and after thyroid function normalization...
May 24, 2017: Clinical Biochemistry
https://www.readbyqxmd.com/read/28551302/acute-stroke-differential-diagnosis-stroke-mimics
#10
Pedro Vilela
Stroke mimics (SM) are non-vascular conditions that present with an acute neurological deficit simulating acute ischemic stroke and represent a significant percentage of all acute stroke hospital admissions. The most common clinical SM includes conversion/functional (psychiatric disorder); seizures and postictal paralysis; toxic-metabolic disturbances; brain tumours; infections, and migraine. Imaging is essential for SM recognition, being Diffusion weighted imaging (DWI), perfusion imaging and angiographic studies very useful...
May 5, 2017: European Journal of Radiology
https://www.readbyqxmd.com/read/28551184/the-effect-of-different-treatments-for-early-lactation-hyperketonemia-on-blood-%C3%AE-hydroxybutyrate-plasma-nonesterified-fatty-acids-glucose-insulin-and-glucagon-in-dairy-cattle
#11
S Mann, F A Leal Yepes, E Behling-Kelly, J A A McArt
Despite increased efforts in preventing the occurrence of metabolic disorders in transition cows, hyperketonemia remains a frequent early-lactation metabolic disease affecting an average of 40% of cows in herds in the United States. Despite the demonstrated economic effect of this disorder, controlled clinical trials comparing different treatment strategies in affected cows are lacking. The objective of our study was to investigate the effect of treatment with intravenous glucose, oral propylene glycol, or a combination of both on the reduction in blood β-hydroxybutyrate (BHB) concentrations of early-lactation hyperketonemic dairy cows...
May 24, 2017: Journal of Dairy Science
https://www.readbyqxmd.com/read/28551140/continuous-and-simultaneous-determination-of-venous-blood-metabolites
#12
Anneli Andersson, Qun Chen, Leif Groop, Leif Bülow, Bin Xie
Metabolic syndrome is associated with cardiovascular disease, type 2 diabetes mellitus (T2DM) and prediabetes. Metabolic syndrome is a cluster of interrelated clinical disorders. Difficulties in regulating glucose levels in blood are implicated in many of these disorders. Lactate, another energy metabolite, is produced under anaerobic conditions and can be used to monitor the balance between aerobic and anaerobic metabolism. Tested together, these metabolite levels can provide pro-diagnostic information that improves patient outcomes...
August 15, 2017: Talanta
https://www.readbyqxmd.com/read/28550831/-relevance-of-omega-3-and-omega-6-omega-3-ratio-in-preventing-cognitive-impairment
#13
Belina Nunes, Cristina Pinho, Cláudia Sousa, Alan Rocha Melo, Narcisa Bandarra, Maria Carolina Silva
INTRODUCTION: The epidemiological and social relevance of dementia and mild cognitive impairment increases with life expectancy and prevalence of metabolic disorders. The recognition of an important role for dietary nutrients on cognitive functioning opens new preventive strategies. This work analyses the association between erythrocyte omega-3 index and omega-6 / omega-3 ratio and cognitive performance/ mild cognitive impairment. MATERIAL AND METHODS: We selected a random sample of individuals registered at a health centre aged ≥ 55 years...
March 31, 2017: Acta Médica Portuguesa
https://www.readbyqxmd.com/read/28550500/acute-and-long-term-effects-of-intracerebroventricular-administration-of-%C3%AE-ketoisocaproic-acid-on-oxidative-stress-parameters-and-cognitive-and-noncognitive-behaviors
#14
Luciane Taschetto, Giselli Scaini, Hugo G Zapelini, Ândrea C Ramos, Giulia Strapazzon, Vanessa M Andrade, Gislaine Z Réus, Monique Michels, Felipe Dal-Pizzol, João Quevedo, Patrícia F Schuck, Gustavo C Ferreira, Emilio L Streck
Maple Syrup Urine Disease (MSUD) is biochemically characterized by elevated levels of leucine, isoleucine and valine, as well as their corresponding transaminated branched-chain α-keto acids in tissue and biological fluids. Neurological symptoms and cerebral abnormalities, whose mechanisms are still unknown, are typical of this metabolic disorder. In the present study, we evaluated the early effects (1 h after injection) and long-term effects (15 days after injection) of a single intracerebroventricular administration of α-ketoisocaproic acid (KIC) on oxidative stress parameters and cognitive and noncognitive behaviors...
May 27, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28549834/obstructive-sleep-apnea-the-effect-of-bariatric-surgery-after-12%C3%A2-months-a-prospective-multicenter-trial
#15
P Peromaa-Haavisto, H Tuomilehto, J Kössi, J Virtanen, M Luostarinen, J Pihlajamäki, P Käkelä, M Victorzon
BACKGROUND: Obstructive sleep apnea (OSA) is a highly prevalent sleep disorder, particularly in bariatric patients. It is known to be tightly linked with metabolic abnormalities and cardiovascular morbidity. Obesity is the most noteworthy individual risk factor for OSA. The aim of this study was to investigate the effect of a laparoscopic Roux-en-Y gastric bypass (LRYGB) on OSA one year after surgery. METHODS: In this prospective multicenter study standard overnight cardiorespiratory recording was conducted 12 months after bariatric surgery in 132 patients who had OSA in the baseline recording prior to the operation...
January 12, 2017: Sleep Medicine
https://www.readbyqxmd.com/read/28549500/greater-preclinical-atherosclerosis-in-treated-monogenic-familial-hypercholesterolemia-vs-polygenic-hypercholesterolemia
#16
Mahtab Sharifi, Elizabeth Higginson, Sven Bos, Angela Gallivan, Darren Harvey, Ka Wah Li, Amali Abeysekera, Angela Haddon, Helen Ashby, Kate E Shipman, Jackie A Cooper, Marta Futema, Jeanine E Roeters van Lennep, Eric J G Sijbrands, Mourad Labib, Devaki Nair, Steve E Humphries
BACKGROUND AND AIMS: Familial hypercholesterolemia (FH) is a common inherited disorder of low density lipoprotein-cholesterol (LDL-C) metabolism. It is associated with higher risk of premature coronary heart disease. Around 60% of patients with a clinical diagnosis of FH do not have a detectable mutation in the genes causing FH and are most likely to have a polygenic cause for their raised LDL-C. We assessed the degree of preclinical atherosclerosis in treated patients with monogenic FH versus polygenic hypercholesterolemia...
May 13, 2017: Atherosclerosis
https://www.readbyqxmd.com/read/28549128/atad3-gene-cluster-deletions-cause-cerebellar-dysfunction-associated-with-altered-mitochondrial-dna-and-cholesterol-metabolism
#17
Radha Desai, Ann E Frazier, Romina Durigon, Harshil Patel, Aleck W Jones, Ilaria Dalla Rosa, Nicole J Lake, Alison G Compton, Hayley S Mountford, Elena J Tucker, Alice L R Mitchell, Deborah Jackson, Abdul Sesay, Miriam Di Re, Lambert P van den Heuvel, Derek Burke, David Francis, Sebastian Lunke, George McGillivray, Simone Mandelstam, Fanny Mochel, Boris Keren, Claude Jardel, Anne M Turner, P Ian Andrews, Jan Smeitink, Johannes N Spelbrink, Simon J Heales, Masakazu Kohda, Akira Ohtake, Kei Murayama, Yasushi Okazaki, Anne Lombès, Ian J Holt, David R Thorburn, Antonella Spinazzola
Although mitochondrial disorders are clinically heterogeneous, they frequently involve the central nervous system and are among the most common neurogenetic disorders. Identifying the causal genes has benefited enormously from advances in high-throughput sequencing technologies; however, once the defect is known, researchers face the challenge of deciphering the underlying disease mechanism. Here we characterize large biallelic deletions in the region encoding the ATAD3C, ATAD3B and ATAD3A genes. Although high homology complicates genomic analysis of the ATAD3 defects, they can be identified by targeted analysis of standard single nucleotide polymorphism array and whole exome sequencing data...
June 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28547180/role-of-antioxidant-treatment-on-dna-and-lipid-damage-in-the-brain-of-rats-subjected-to-a-chemically-induced-chronic-model-of-tyrosinemia-type-ii
#18
Emilio L Streck, Samira D T De Prá, Paula Ronsani Ferro, Milena Carvalho-Silva, Lara M Gomes, Jotele F Agostini, Adriani Damiani, Vanessa M Andrade, Patrícia F Schuck, Gustavo C Ferreira, Giselli Scaini
Tyrosine levels are abnormally elevated in tissues and body fluids of patients with inborn errors of tyrosine metabolism. Tyrosinemia type II, which is caused by tyrosine aminotransferase deficiency, provokes eyes, skin, and central nervous system disturbances in affected patients. However, the mechanisms of brain damage are still poorly known. Considering that studies have demonstrated that oxidative stress may contribute, along with other mechanisms, to the neurological dysfunction characteristic of hypertyrosinemia, in the present study we investigated the effects of antioxidant treatment (NAC and DFX) on DNA damage and oxidative stress markers induced by chronic administration of L-tyrosine in cerebral cortex, hippocampus, and striatum of rats...
May 25, 2017: Molecular and Cellular Biochemistry
https://www.readbyqxmd.com/read/28546856/epigenetic-regulation-of-runx2-transcription-and-osteoblast-differentiation-by-nicotinamide-phosphoribosyltransferase
#19
Min Ling, Peixin Huang, Shamima Islam, Daniel P Heruth, Xuanan Li, Li Qin Zhang, Ding-You Li, Zhaohui Hu, Shui Qing Ye
BACKGROUND: Bone degenerative disorders like osteoporosis may be initiated by age-related shifts in anabolic and catabolic responses that control bone homeostasis. Although there are studies suggesting that metabolic changes occur with stem cell differentiation, the molecular mechanisms governing energy metabolism and epigenetic modification are not understood fully. Here we reported the key role of nicotinamide phosphoribosyltransferase (Nampt), which is the rate-limiting enzyme in the salvage pathway of NAD biosynthesis from nicotinamide, in the osteogenic differentiation of bone marrow stromal cells...
2017: Cell & Bioscience
https://www.readbyqxmd.com/read/28546543/metabolic-profiling-of-polycystic-ovary-syndrome-reveals-interactions-with-abdominal-obesity
#20
Alexessander Couto Alves, Beatriz Valcarcel, Ville-Petteri Mäkinen, Laure Morin-Papunen, Sylvain Sebert, Antti J Kangas, Pasi Soininen, Shikta Das, Maria De Iorio, Lachlan Coin, Mika Ala-Korpela, Marjo-Riitta Järvelin, Stephen Franks
BACKGROUND: Polycystic ovary syndrome (PCOS) is a common reproductive disorder associated with metabolic disturbances including obesity, insulin resistance, and diabetes mellitus. Here we investigate whether changes in the metabolic profile of PCOS women are driven by increased tendency to obesity or are specific features of PCOS related to increased testosterone levels. DESIGN AND METHODS: We conducted an NMR metabolomics association study of PCOS cases (n=145) and controls (n=687) nested in a population-based birth cohort (n=3,127)...
May 26, 2017: International Journal of Obesity: Journal of the International Association for the Study of Obesity
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