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https://www.readbyqxmd.com/read/27904153/genotype-and-phenotype-characterization-in-a-spanish-cohort-with-isovaleric-acidemia
#1
María L Couce, Luís Aldamiz-Echevarría, María A Bueno, Patricia Barros, Amaya Belanger-Quintana, Javier Blasco, María-Teresa García-Silva, Ana M Márquez-Armenteros, Isidro Vitoria, Inmaculada Vives, Rosa Navarrete, Ana Fernández-Marmiesse, Belén Pérez, Celia Pérez-Cerdá
Isovaleric acidemia (IVA) is a rare disorder of leucine metabolism. We carried out a multicenter study of IVA patients diagnosed by newborn screening (NBS) or symptoms clinics over a period of 28 years in Spain. Evaluated at diagnosis, data included age, detection method, levels of C5 and IVG, enzymatic studies, clinical presentation parameters and genotype in 16 patients. Follow-up data included C5 levels, intellectual quotient and correlation genotype-phenotype. IVA was detected by NBS in 8 patients (prevalence of 1/326 629)...
December 1, 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/27904148/the-interaction-between-erectile-dysfunction-complaints-and-depression-in-men-a-cross-sectional-study-about-sleep-hormones-and-quality-of-life
#2
J H Soterio-Pires, C Hirotsu, L J Kim, L Bittencourt, S Tufik, M L Andersen
Depression (DEP) is one of the main disabling diseases and is considered a contributor factor for erectile dysfunction (ED). Both of these conditions may be associated with hormonal changes and sleep disturbances. We aimed to evaluate the interaction between ED complaints and depression symptoms on sleep parameters, hormone levels and quality of life in men. This was a cross-sectional study of 468 men aged 20-80 years. The participants were classified according to the presence of ED and/or DEP in groups of healthy individuals, ED, DEP and DEP with ED (DEP-ED)...
December 1, 2016: International Journal of Impotence Research
https://www.readbyqxmd.com/read/27904146/the-correlation-between-high-sensitivity-c-reactive-protein-and-erectile-dysfunction-patients-with-hypertension-treated-with-vardenafil
#3
S Azab, H Aoud, N Nabil
We evaluate the correlation between the plasma level of C-reactive protein (CRP) in patients with erectile dysfunction (ED) and hypertension and to set up whether the CRP level affected by the treatment of vardenafil 10 mg orally once daily. A total of 116 male patients with ED and hypertension were enrolled in this prospective study. The patients were divided into two groups, group 1 (ED patients with Not controlled hypertension) and group 2 (ED patients with controlled hypertension). All patients completed the International Index of Erectile Function (IIEF) scores, performed a penile color Doppler ultrasound examination and high sensitivity (hs-CRP) levels...
December 1, 2016: International Journal of Impotence Research
https://www.readbyqxmd.com/read/27903563/leveraging-ongoing-research-to-evaluate-the-health-impacts-of-south-africa-s-salt-reduction-strategy-a-prospective-nested-cohort-within-the-who-sage-multicountry-longitudinal-study
#4
Karen Charlton, Lisa J Ware, Elias Menyanu, Richard Berko Biritwum, Nirmala Naidoo, Chiné Pieterse, Savathree Lorna Madurai, Jeannine Baumgartner, George A Asare, Elizabeth Thiele, Aletta E Schutte, Paul Kowal
INTRODUCTION: Attempting to curb the rising epidemic of hypertension, South Africa implemented legislation in June 2016 mandating maximum sodium levels in a range of manufactured foods that contribute significantly to population salt intake. This natural experiment, comparing two African countries with and without salt legislation, will provide timely information on the impact of legislative approaches addressing the food supply to improve blood pressure in African populations. This article outlines the design of this ongoing prospective nested cohort study...
November 30, 2016: BMJ Open
https://www.readbyqxmd.com/read/27901040/follow-up-care-by-a-genetic-counsellor-for-relatives-at-risk-for-cardiomyopathies-is-cost-saving-and-well-appreciated-a-randomised-comparison
#5
Karin Nieuwhof, Erwin Birnie, Maarten P van den Berg, Rudolf A de Boer, Paul L van Haelst, J Peter van Tintelen, Irene M van Langen
Increasing numbers of patient relatives at risk of developing dilated or hypertrophic cardiomyopathy (DCM/HCM) are being identified and followed up by cardiologists according to the ACC/ESC guidelines. However, given limited healthcare resources, good-quality low-cost alternative approaches are needed. Therefore, we have compared conventional follow-up by a cardiologist with that provided at a cardiogenetic clinic (CGC) led by a genetic counsellor. Phenotype-negative first-degree relatives at risk for DCM/HCM were randomly assigned to see either a cardiologist or to attend a CGC...
November 30, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27901034/validity-and-reliability-of-the-dietary-sodium-restriction-questionnaire-in-patients-with-hypertension
#6
M P Rodrigues, E Rabelo-Silva, F D Fuchs, S C Fuchs, L B Moreira
The study aimed to evaluate the reliability and the validity of the dietary sodium restriction questionnaire (DSRQ) in patients with hypertension receiving outpatient treatment at a tertiary care university hospital in Southern Brazil. This instrument is composed of three subscales: attitude, subjective norm and perceived behavioral control. A total of 104 patients were included. They were 63.3±8.9 years old and 75% were females. Cronbach's alpha coefficient for the subscales of attitude, subjective norm and perceived behavioral control were 0...
November 30, 2016: European Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/27900772/hematopoietic-stem-cell-transplantation-for-people-with-%C3%A3-thalassaemia-major
#7
REVIEW
Vanitha A Jagannath, Zbys Fedorowicz, Amani Al Hajeri, Akshay Sharma
BACKGROUND: Thalassemia is an inherited autosomal recessive blood disorder, caused by mutations in globin genes or their regulatory regions. This results in a reduced rate of synthesis of one of the globin chains that make up haemoglobin. In ß-thalassaemia major there is an underproduction of ß-globin chains combined with excess of free α-globin chains. The excess free α-globin chains precipitate in red blood cells, leading to their destruction (haemolysis) and ineffective erythropoiesis...
November 30, 2016: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/27898657/serum-proteomic-test-in-advanced-non-squamous-non-small-cell-lung-cancer-treated-in-first-line-with-standard-chemotherapy
#8
F Grossi, E Rijavec, C Genova, G Barletta, F Biello, C Maggioni, G Burrafato, C Sini, M G Dal Bello, K Meyer, J Roder, H Roder, J Grigorieva
BACKGROUND: VeriStrat is a blood-based proteomic test with predictive and prognostic significance in second-line treatments for non-small cell lung cancer (NSCLC). This trial was designed to investigate the role of VeriStrat in first-line treatment of advanced NSCLC with standard chemotherapy. Here we present the results for 76 non-squamous patients treated with a combination of carboplatin or cisplatin with pemetrexed. METHODS: The test-assigned classifications of VeriStrat Good or VeriStrat Poor to samples collected at baseline...
November 29, 2016: British Journal of Cancer
https://www.readbyqxmd.com/read/27897267/increasing-bmi-is-associated-with-reduced-expression-of-p-glycoprotein-abcb1-gene-in-the-human-brain-with-a-stronger-association-in-african-americans-than-caucasians
#9
J Vendelbo, R H Olesen, J K Lauridsen, J Rungby, J E Kleinman, T M Hyde, A Larsen
The efflux pump, p-glycoprotein, controls bioavailability and excretion of pharmaceutical compounds. In the blood-brain barrier, p-glycoprotein regulates the delivery of pharmaceutical substances to the brain, influencing efficacy and side effects for some drugs notably antipsychotics. Common side effects to antipsychotics include obesity and metabolic disease. Polymorphisms in the ABCB1 gene coding for p-glycoprotein are associated with more severe side effects to neuro-pharmaceuticals as well as weight gain, indicating a potential link between p-glycoprotein function and metabolic regulation...
November 29, 2016: Pharmacogenomics Journal
https://www.readbyqxmd.com/read/27885692/physiologically-based-pharmacokinetic-model-for-ethyl-tertiary-butyl-ether-and-tertiary-butyl-alcohol-in-rats-contribution-of-binding-to-%C3%AE-2u-globulin-in-male-rats-and-high-exposure-nonlinear-kinetics-to-toxicity-and-cancer-outcomes
#10
Susan J Borghoff, Caroline Ring, Marcy I Banton, Teresa L Leavens
In cancer bioassays, inhalation, but not drinking water exposure to ethyl tertiary-butyl ether (ETBE), caused liver tumors in male rats, while tertiary-butyl alcohol (TBA), an ETBE metabolite, caused kidney tumors in male rats following exposure via drinking water. To understand the contribution of ETBE and TBA kinetics under varying exposure scenarios to these tumor responses, a physiologically based pharmacokinetic model was developed based on a previously published model for methyl tertiary-butyl ether, a structurally similar chemical, and verified against the literature and study report data...
November 24, 2016: Journal of Applied Toxicology: JAT
https://www.readbyqxmd.com/read/27885153/karl-otto-landsteiner-1868-1943-physician-biochemist-immunologist
#11
Armond S Goldman, Frank C Schmalsteig
Karl Landsteiner applied the sciences of biochemistry, pathology, microbiology, and immunology in medical research to great success during the first half of the 20th century. Although he is principally known for elucidating the major blood group antigens A and B and their isoantibodies for which he was awarded the Nobel Prize in Physiology or Medicine, Landsteiner made many other important medical discoveries. In that respect, he ascertained that paralytic poliomyelitis was due to a virus, the pancreas was damaged in cystic fibrosis, simple chemicals called haptens were able to combine with antibodies, and the Rh antigen that was later found to be the principal cause of hemolytic anemia of the newborn was found in most humans...
November 24, 2016: Journal of Medical Biography
https://www.readbyqxmd.com/read/27884852/diagnostic-and-prognostic-biomarkers-in-the-rational-assessment-of-mesothelioma-diaphragm-study-protocol-of-a-prospective-multicentre-observational-study
#12
Selina Tsim, Caroline Kelly, Laura Alexander, Carol McCormick, Fiona Thomson, Rosie Woodward, John E Foster, David B Stobo, Jim Paul, Nick A Maskell, Anthony Chalmers, Kevin G Blyth
INTRODUCTION: Malignant pleural mesothelioma (MPM) is an asbestos-related cancer, which is difficult to diagnose. Thoracoscopy is frequently required but is not widely available. An accurate, non-invasive diagnostic biomarker would allow early specialist referral, limit diagnostic delays and maximise clinical trial access. Current markers offer insufficient sensitivity and are not routinely used. The SOMAmer proteomic classifier and fibulin-3 have recently demonstrated sensitivity and specificity exceeding 90% in retrospective studies...
November 24, 2016: BMJ Open
https://www.readbyqxmd.com/read/27884018/blood-transfusion-during-radical-chemo-radiotherapy-does-not-reduce-tumour-hypoxia-in-squamous-cell-cancer-of-the-head-and-neck
#13
Liam Welsh, Rafal Panek, Angela Riddell, Kee Wong, Martin O Leach, Mahvash Tavassoli, Durdana Rahman, Maria Schmidt, Tara Hurley, Lorna Grove, Thomas Richards, Dow-Mu Koh, Christopher Nutting, Kevin Harrington, Kate Newbold, Shreerang Bhide
BACKGROUND: Patients with head and neck squamous cell carcinoma (HNSCC) undergoing radical chemo-radiation (CRT) frequently receive transfusion with packed red cells (PRCT) during radiotherapy on the basis that PRCT increases tumour oxygenation and overcomes hypoxia-induced radio-resistance. This is likely to be a significant oversimplification given the fact that tumour hypoxia is the result of several intrinsic and extrinsic factors, including many that are not directly related to serum haemoglobin (Hb)...
November 24, 2016: British Journal of Cancer
https://www.readbyqxmd.com/read/27882931/plasma-sfrp5-and-adiponectin-levels-in-relation-to-blood-pressure-among-obese-children
#14
C Yin, H Chu, H Li, Y Xiao
The aim was to clarify the associations of five adipocytokines: Sfrp5, Wnt5a, adiponectin, chemerin and high-sensitivity C-reactive protein (hsCRP) with blood pressure (BP), and to examine whether BP can be influenced by changes in these adipocytokines in obese children after a 6-month lifestyle intervention. We conducted a cross-sectional study in 263 obese children and performed a 6-month lifestyle intervention in a subgroup of 89 obese children with hypertension. Anthropometric data, adiponectin, chemerin, Sfrp5 and Wnt5a were assessed at baseline and after 6-month lifestyle intervention...
November 24, 2016: Journal of Human Hypertension
https://www.readbyqxmd.com/read/27882930/hypertension-is-an-important-risk-determinant-for-chronic-kidney-disease-results-from-a-cross-sectional-observational-study-from-a-rural-population-in-south-india
#15
Y J Anupama, S N Hegde, G Uma, M Patil
Hypertension (HTN) is an important cause for chronic kidney disease (CKD). There is a paucity of studies exploring the association of HTN with CKD from rural India. The objective of the study was to determine the prevalence and the determinants for HTN in a rural population in South India, focusing on the association with CKD. In a cross-sectional study on 2984 adults in three villages, demographic and anthropometric data were collected. Blood pressure was recorded on all individuals and prevalence was estimated...
November 24, 2016: Journal of Human Hypertension
https://www.readbyqxmd.com/read/27876761/early-infant-adipose-deposition-is-positively-associated-with-the-n-6-to-n-3-fatty-acid-ratio-in-human-milk-independent-of-maternal-bmi
#16
M C Rudolph, B E Young, D J Lemas, C E Palmer, T L Hernandez, L A Barbour, J E Friedman, N F Krebs, P S MacLean
BACKGROUND/OBJECTIVES: Excessive infant weight gain in the first 6-months of life is a powerful predictor of childhood obesity and related health risks. In mice, omega-6 fatty acids (FA) serve as potent ligands driving adipogenesis during early development. The ratio of omega-6 relative to omega-3 (n-6/n-3) FA in human milk (HM) has increased 3-fold over the last 30 years, but the impact of this shift on infant adipose development remains undetermined. This study investigated how maternal obesity and maternal dietary FA (as reflected in maternal red blood cells (RBC) composition) influenced HM n-6 and n-3 FAs, and whether the HM n-6/n-3 ratio was associated with changes in infant adipose deposition between 2-weeks and 4-months postpartum...
November 23, 2016: International Journal of Obesity: Journal of the International Association for the Study of Obesity
https://www.readbyqxmd.com/read/27875525/precision-medicine-in-cancer-challenges-and-recommendations-from-an-eu-funded-cervical-cancer-biobanking-study
#17
Sanne Samuels, Balazs Balint, Heiko von der Leyen, Philippe Hupé, Leanne de Koning, Choumouss Kamoun, Windy Luscap-Rondof, Ulrike Wittkop, Ksenia Bagrintseva, Marina Popovic, Atttila Kereszt, Els Berns, Gemma G Kenter, Ekaterina S Jordanova, Maud Kamal, Susy Scholl
BACKGROUND: Cervical cancer (CC) remains a leading cause of gynaecological cancer-related mortality worldwide. CC pathogenesis is triggered when human papillomavirus (HPV) inserts into the genome, resulting in tumour suppressor gene inactivation and oncogene activation. Collecting tumour and blood samples is critical for identifying these genetic alterations. METHODS: BIO-RAIDs is the first prospective molecular profiling clinical study to include a substantial biobanking effort that used uniform high-quality standards and control of samples...
November 22, 2016: British Journal of Cancer
https://www.readbyqxmd.com/read/27875519/expression-of-somatostatin-receptors-2-and-5-in-circulating-tumour-cells-from-patients-with-neuroendocrine-tumours
#18
Alexa Childs, Clare Vesely, Leah Ensell, Helen Lowe, Tu Vinh Luong, Martyn E Caplin, Christos Toumpanakis, Christina Thirlwell, John A Hartley, Tim Meyer
BACKGROUND: Neuroendocrine tumours (NET) overexpress somatostatin receptors (SSTR) that can be targeted for therapy. Somatostatin receptor expression is routinely measured by molecular imaging but the resolution is insufficient to define heterogeneity. We hypothesised that SSTR expression could be measured on circulating tumour cells (CTCs) and used to investigate heterogeneity of expression and track changes during therapy. METHODS: MCF-7 cells were transfected with SSTR2 or 5 and spiked into donor blood for analysis by CellSearch...
November 22, 2016: British Journal of Cancer
https://www.readbyqxmd.com/read/27875518/a-national-cluster-randomised-controlled-trial-to-examine-the-effect-of-enhanced-reminders-on-the-socioeconomic-gradient-in-uptake-in-bowel-cancer-screening
#19
Rosalind Raine, Sue M Moss, Christian von Wagner, Wendy Atkin, Ines Kralj Hans, Rosemary Howe, Francesca Solmi, Stephen Morris, Nicholas Counsell, Allan Hackshaw, Stephen Halloran, Graham Handley, Richard F Logan, Sandra Rainbow, Steve Smith, Julia Snowball, Helen Seaman, Mary Thomas, Samuel G Smith, Lesley M McGregor, Gemma Vart, Jane Wardle, Stephen W Duffy
BACKGROUND: The NHS Bowel Cancer Screening Programme in England offers biennial guaiac faecal occult blood testing (gFOBt). There is a socioeconomic gradient in participation and socioeconomically disadvantaged groups have worse colorectal cancer survival than more advantaged groups. We compared the effectiveness and cost of an enhanced reminder letter with the usual reminder letter on overall uptake of gFOBt and the socioeconomic gradient in uptake. METHODS: We enhanced the usual reminder by including a heading 'A reminder to you' and a short paragraph restating the offer of screening in simple language...
November 22, 2016: British Journal of Cancer
https://www.readbyqxmd.com/read/27872119/efficacy-of-intravenous-nicorandil-for-fractional-flow-reserve-assessment-study-protocol-for-a-crossover-randomised-trial
#20
Takeshi Nishi, Hideki Kitahara, Yoshihide Fujimoto, Takashi Nakayama, Kazumasa Sugimoto, Kengo Nagashima, Hideki Hanaoka, Yoshio Kobayashi
INTRODUCTION: Nicorandil has vasodilatory effects on both the epicardial coronary arteries and the coronary microvasculature, thereby increasing coronary blood flow. Intravenous administration of nicorandil can be applicable for fractional flow reserve (FFR) measurement as a hyperaemic agent and a possible alternative to adenosine. However, the effectiveness of intravenous nicorandil infusion for FFR measurement is largely unclear. METHODS AND ANALYSIS: This crossover randomised study is being performed to investigate the efficacy of intravenous administration of nicorandil for FFR measurement...
November 21, 2016: BMJ Open
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