keyword
MENU ▼
Read by QxMD icon Read
search

AT-3 deficiency

keyword
https://www.readbyqxmd.com/read/28227465/reaction-mechanism-of-blood-coagulation-factors-in-shear-flow-field
#1
Koki Kawakami, Daisuke Sakota, Ryo Kosaka, Masahiro Nishida, Yasuo Kawaguchi, Osamu Maruyama, Koki Kawakami, Daisuke Sakota, Ryo Kosaka, Masahiro Nishida, Yasuo Kawaguchi, Osamu Maruyama, Masahiro Nishida, Koki Kawakami, Ryo Kosaka, Yasuo Kawaguchi, Osamu Maruyama, Daisuke Sakota
Thrombus formation in blood pumps is a major problem. It has been reported that the shear rate is closely related to thrombus formation in blood pumps; however, the mechanism of blood coagulation in a shear flow field is not yet fully understood. The purpose of this study is to evaluate the effect of shear loading on the reaction of blood coagulation factors quantitatively. Human blood and porcine blood were used as test blood and sheared at 2,880 s(-1) for 3 h using a rheometer. After shear loading to the test blood, the activated partial thromboplastin time (APTT) and prothrombin time (PT) of sample plasma were measured using an automated coagulation analyzer...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28225873/alert-for-bone-alterations-and-low-serum-concentrations-of-vitamin-d-in-patients-with-intestinal-inflammatory-disease
#2
Lorete Maria da Silva Kotze, Carolina Tabata Costa, Murilo Franco Cavassani, Renato Mitsunori Nisihara
BACKGROUND: Inflammatory bowel diseases (IBD), including Crohn's disease (CD) and ulcerative colitis (UC), are characterized by chronic inflammation of the intestine that can reduce the absorption of nutrients such as vitamin D and calcium. OBJECTIVE: To investigate bone alterations and serum levels of vitamin D in patients with IBD. METHOD: This was a cross-sectional study based on a review of medical records of patients from a private office in Curitiba, PR, Brazil...
January 1, 2017: Revista da Associação Médica Brasileira
https://www.readbyqxmd.com/read/28225674/inhibiting-plasma-kallikrein-for-hereditary-angioedema-prophylaxis
#3
Aleena Banerji, Paula Busse, Mustafa Shennak, William Lumry, Mark Davis-Lorton, Henry J Wedner, Joshua Jacobs, James Baker, Jonathan A Bernstein, Richard Lockey, H Henry Li, Timothy Craig, Marco Cicardi, Marc Riedl, Ahmad Al-Ghazawi, Carolyn Soo, Ryan Iarrobino, Daniel J Sexton, Christopher TenHoor, Jon A Kenniston, Ryan Faucette, J Gordon Still, Harvey Kushner, Robert Mensah, Chris Stevens, Joseph C Biedenkapp, Yung Chyung, Burt Adelman
Background Hereditary angioedema with C1 inhibitor deficiency is characterized by recurrent, unpredictable swelling episodes caused by uncontrolled plasma kallikrein generation and excessive bradykinin release resulting from cleavage of high-molecular-weight kininogen. Lanadelumab (DX-2930) is a new kallikrein inhibitor with the potential for prophylactic treatment of hereditary angioedema with C1 inhibitor deficiency. Methods We conducted a phase 1b, multicenter, double-blind, placebo-controlled, multiple-ascending-dose trial...
23, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28225310/central-diabetes-insipidus-clinical-characteristics-and-long-term-course-in-a-large-cohort-of-adults
#4
Hiba Masri-Iraqi, Dania Hirsch, Dana Herzberg, Avner Lifshitz, Gloria Tsvetov, Carlos Benbassat, Ilan Shimon
Purpose Central diabetes insipidus (CDI) is a rare heterogeneous condition with various underlying causes. This study sought to increase the still-limited data on the clinical characteristics and long-term course in adults diagnosed with CDI. Methods Data on demographics, presentation, imaging findings, affected pituitary axes, treatment, and complications were collected retrospectively from the files of 70 adult patients with CDI followed at a referral endocrine clinic. Results 40 women and 30 men were included...
February 22, 2017: Endocrine Practice
https://www.readbyqxmd.com/read/28225087/ampk-deficiency-in-chondrocytes-accelerated-the-progression-of-instability-induced-and-ageing-associated-osteoarthritis-in-adult-mice
#5
Sheng Zhou, Wanli Lu, Liang Chen, Qiting Ge, Dongyang Chen, Zhihong Xu, Dongquan Shi, Jin Dai, Jianxin Li, Huangxian Ju, Yi Cao, Jinzhong Qin, Shuai Chen, Huajian Teng, Qing Jiang
Osteoarthritis (OA) is a progressive degenerative disease of the joints that is associated with both joint injury and ageing. Here, we investigated the role of the energy sensor AMP-activated protein kinase (AMPK) in maintaining a healthy state of articular cartilage and in OA development. Using cartilage-specific, tamoxifen-inducible AMPKα1 conditional knockout (AMPKα1 cKO), AMPKα2 conditional knockout (AMPKα2 cKO) and AMPKα1α2 conditional double knockout (AMPKα cDKO) mice, we found that compared with wild-type (WT) littermates, mutant mice displayed accelerated severity of surgically induced OA, especially AMPKα cDKO mice...
February 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28224564/increased-glucocorticoid-receptor-expression-in-sepsis-is-related-to-heat-shock-proteins-cytokines-and-cortisol-and-is-associated-with-increased-mortality
#6
Konstantinos Vardas, Stavroula Ilia, Amalia Sertedaki, Evangelia Charmandari, Efrossini Briassouli, Dimitris Goukos, Kleovoulos Apostolou, Katerina Psarra, Efthimia Botoula, Stylianos Tsagarakis, Eleni Magira, Christina Routsi, Constantine A Stratakis, Serafim Nanas, George Briassoulis
BACKGROUND: The purposes of this study are to examine if the human glucocorticoid receptor (hGR) isoform-α mRNA and hGR protein expressions are deficient in the acute phase of sepsis (S) compared to systemic inflammatory response syndrome (SIRS) and healthy subjects (H) and to evaluate if the hGRα and hGR alterations are associated with cortisol changes and if they are related to (1) extracellular and intracellular heat shock proteins (HSP) 72 and 90α; (2) ACTH, prolactin, and interleukins (ILs); and (3) outcome...
December 2017: Intensive Care Medicine Experimental
https://www.readbyqxmd.com/read/28224442/report-of-the-primary-outcomes-for-gait-mechanics-in-men-of-the-acl-sports-trial-secondary-prevention-with-and-without-perturbation-training-does-not-restore-gait-symmetry-in-men-1-or-2-years-after-acl-reconstruction
#7
Jacob John Capin, Ryan Zarzycki, Amelia Arundale, Kathleen Cummer, Lynn Snyder-Mackler
BACKGROUND: Movement asymmetries during walking are common after anterior cruciate ligament (ACL) injury and reconstruction and may influence the early development of posttraumatic osteoarthritis. Preoperative neuromuscular training (like perturbation training, which is neuromuscular training requiring selective muscle activation in response to surface perturbations) improves gait asymmetries and functional outcomes among people who are ACL-deficient, but the effect of postoperative perturbation training on gait mechanics after ACL reconstruction is unknown...
February 21, 2017: Clinical Orthopaedics and related Research
https://www.readbyqxmd.com/read/28223090/roux-en-y-gastric-bypass-for-the-treatment-of-severe-complications-after-omega-loop-gastric-bypass
#8
Tigran Poghosyan, Clementine Caille, David Moszkowicz, Mouna Hanachi, Claire Carette, Jean-Luc Bouillot
BACKGROUND: Omega-loop gastric bypass (OLGB) may be associated with severe complications, including anastomotic leak, refractory ulcer or stenosis, undernutrition, and disabling digestive disorders (chronic diarrhea, steatorrhea, bile reflux, and vomiting). OLGB conversion to Roux-en-Y gastric bypass (RYGB) was suggested to treat these complications. OBJECTIVES: To evaluate the efficacy and risk of severe complications after OLGB conversion to RYGB. SETTING: University hospital...
December 9, 2016: Surgery for Obesity and related Diseases: Official Journal of the American Society for Bariatric Surgery
https://www.readbyqxmd.com/read/28220408/guanidinoacetate-methyltransferase-activity-in-lymphocytes-for-a-fast-diagnosis
#9
Lisette M Berends, Eduard A Struys, Birthe Roos, Ulbe Holwerda, Erwin E W Jansen, Gajja S Salomons, Mirjam M C Wamelink
INTRODUCTION: Guanidinoacetate methyltransferase (GAMT) deficiency is an inborn error of metabolism (IEM), clinically characterized by intellectual disability, developmental delay, seizures, and movement disorders. Biochemical diagnosis of GAMT deficiency is based on the measurement of creatine and guanidinoacetate in urine, plasma, or CSF and is confirmed genetically by DNA analysis or by enzyme assay in lymphoblasts or fibroblasts. To obtain enough cells, these cells need to be cultured for at least 1 month...
February 21, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28220407/favourable-outcome-in-two-pregnancies-in-a-patient-with-3-hydroxy-3-methylglutaryl-coa-lyase-deficiency
#10
David Santosa, Markus G Donner, Stephan Vom Dahl, Markus Fleisch, Thomas Hoehn, Ertan Mayatepek, Katrin Heldt, Tim Niehues, Dieter Häussinger
In patients with 3-hydroxy-3-methylglutaryl(HMG)-CoA lyase deficiency (OMIM 246450), five pregnancies have been described worldwide, which were either terminated or resulted in severe metabolic sequelae during pregnancy or delivery. Here, we report on a patient with HMG-CoA lyase deficiency, who underwent two uncomplicated pregnancies. The 19-year-old patient was admitted because of recurrent vomiting and nausea. Diagnostics revealed pregnancy at week 8 of gestation. Metabolic analyses revealed normal lactate and blood glucose levels and normal acid-base status...
February 21, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28220263/characterization-and-outcome-of-41-patients-with-beta-ketothiolase-deficiency-10%C3%A2-years-experience-of-a-medical-center-in-northern-vietnam
#11
Khanh Ngoc Nguyen, Elsayed Abdelkreem, Roberto Colombo, Yuki Hasegawa, Ngoc Thi Bich Can, Thao Phuong Bui, Hai Thanh Le, Mai Thi Chi Tran, Hoan Thi Nguyen, Hung Thanh Trinh, Yuka Aoyama, Hideo Sasai, Seiji Yamaguchi, Toshiyuki Fukao, Dung Chi Vu
Beta-ketothiolase (T2) deficiency is an inherited disease of isoleucine and ketone body metabolism caused by mutations in the ACAT1 gene. Between 2005 and 2016, a total of 41 patients with T2 deficiency were identified at a medical center in northern Vietnam, with an estimated incidence of one in 190,000 newborns. Most patients manifested ketoacidotic episodes of varying severity between 6 and 18 months of age. Remarkably, 28% of patients showed high blood glucose levels (up to 23.3 mmol/L). Ketoacidotic episodes recurred in 43% of patients...
February 20, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28219770/silencing-of-the-mrna-binding-protein-hur-increases-the-sensitivity-of-colorectal-cancer-cells-to-ionizing-radiation-through-upregulation-of-caspase-2
#12
Amel Badawi, Stephanie Hehlgans, Josef Pfeilschifter, Franz Rödel, Wolfgang Eberhardt
Increased abundance of the mRNA-binding protein human antigen R (HuR) is a characteristic feature of many cancers and frequently associated with a high grade malignancy and therapy resistance. HuR elicits a broad cell survival program mainly by stabilizing or increasing the translation of mRNAs coding for anti-apoptotic effector proteins. Conversally, we previously identified the pro-apoptotic caspase-2 as a novel HuR target which is mainly regulated at the level of translation. In this study, we investigated whether siRNA-mediated HuR knockdown interferes with cell survival and radiation sensitivity by monitoring apoptosis, DNA repair and three-dimensional (3D) clonogenic survival...
February 17, 2017: Cancer Letters
https://www.readbyqxmd.com/read/28218986/risk-factors-hindering-asthma-symptoms-control-in-saudi-children-and-adolescents
#13
Rabih Halwani, Alejandro Vazquez-Tello, Nour Horanieh, Said Dulgom, Zohair Al-Aseri, Nouf Al-Khamis, Zubaida Al-Sum, Hamdan Al-Jahdali, Saleh Al-Muhsen
BACKGROUND: Maintaining well control of asthma symptoms can help preventing exacerbations and its associated complications. The Asthma Control Test (ACT) can rapidly assess the effectiveness of asthma management plan and therapy. OBJECTIVE: To identify risk factors associated with uncontrolled asthma symptoms in young Saudi asthmatics (3-17 years-old). METHODS: In this cross-sectional hospital-based survey, the ACT was administered to 297 asthmatic children/adolescents, recruited at the emergency department (ED) of two major hospitals...
February 20, 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/28218468/igf-1-receptor-expression-on-circulating-osteoblast-progenitor-cells-predicts-tissue-based-bone-formation-rate-and-response-to-teriparatide-in-premenopausal-women-with-idiopathic-osteoporosis
#14
Adi Cohen, Stavroula Kousteni, Brygida Bisikirska, Jayesh G Shah, J Sanil Manavalan, Robert R Recker, Joan Lappe, David W Dempster, Hua Zhou, Donald J McMahon, Mariana Bucovsky, Mafo Kamanda-Kosseh, Julie Stubby, Elizabeth Shane
We have previously reported that premenopausal women with idiopathic osteoporosis (IOP) have profound microarchitectural deficiencies and heterogeneous bone remodeling. Those with the lowest bone formation rate have higher baseline serum IGF-1 levels and less robust response to teriparatide. Because IGF-1 stimulates bone formation and is critical for teriparatide action on osteoblasts, these findings suggest a state of IGF-1 resistance in some IOP women. To further investigate the hypothesis that osteoblast and IGF-1 related mechanisms mediate differential responsiveness to teriparatide in IOP, we studied circulating osteoblast progenitor (COP) cells and their IGF-1 receptor (IGF-1R) expression...
February 20, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28217829/vitamin-d-and-autism-what-s-new
#15
REVIEW
John Jacob Cannell
An increasing amount of evidence points to the possibility that gestational and early childhood vitamin D deficiency [25(OH)D < 40 ng/ml] cause some cases of autism. Vitamin D is metabolized into a seco-steroid hormone that regulates about 3% of the 26,000 genes in the coding human genome. It is also a neurosteroid that is active in brain development, having effects on cellular proliferation, differentiation, calcium signaling, neurotrophic and neuroprotective actions; it also appears to have an effect on neurotransmission and synaptic plasticity...
February 20, 2017: Reviews in Endocrine & Metabolic Disorders
https://www.readbyqxmd.com/read/28217672/effects-of-vitamin-d-deficiency-and-daily-calcium-intake-on-bone-mineral-density-and-osteoporosis-in-korean-postmenopausal-woman
#16
Seung Joo Chon, Yae Kyu Koh, Jin Young Heo, Jinae Lee, Min Kyoung Kim, Bo Hyon Yun, Byung Seok Lee, Seok Kyo Seo
OBJECTIVE: We evaluated the combined effects of vitamin D and daily calcium intake on bone mineral density (BMD) and osteoporosis in Korean postmenopausal women. METHODS: This study is a cross-sectional study consisting of 1,921 Korean postmenopausal women aged 45 to 70 years without thyroid dysfunction, from the 2008-2011 Korean National Health and Nutrition Examination Survey. Participants were classified into six groups according to serum 25-hydroxyvitamin D (25(OH)D) levels and daily calcium intake...
January 2017: Obstetrics & Gynecology Science
https://www.readbyqxmd.com/read/28217596/distribution-of-abo-and-rh-types-in-voluntary-blood-donors-in-jharkhand-area-as-a-study-conducted-by-rims-ranchi
#17
Anu Singh, Ramesh Kumar Srivastava, Kabita S Deogharia, Kranti Kumar Singh
BACKGROUND: This study was done to know the distribution and frequencies of blood groups among blood donors attending voluntary blood donation camps organized by the Rajendra Institute of Medical Sciences (RIMS), Ranchi, Jharkhand so that demand and supply ratio of the four blood groups can be maintained so that no patient dies due to lack of a particular blood group. CONTEXT: Up till now about 400 red cells antigen have been identified. The majority follow Mendelian inheritance...
July 2016: Journal of Family Medicine and Primary Care
https://www.readbyqxmd.com/read/28217511/profile-of-vitamin-d-in-patients-attending-at-general-hospital-mahad-india
#18
Parag Himatrao Bawaskar, Himmatrao Saluba Bawaskar, Pramodini Himmatrao Bawaskar, Abhijit Patilbuwa Pakhare
BACKGROUND: Despite abundant sunshine, Vitamin D deficiency is prevalent in urban India. However, reports on analyzing Vitamin D status from rural Indian population are scanty. Here, we have evaluated Vitamin D status in patients attending outpatient department (OPD) in a rural Indian hospital setting. METHODS: A hospital-based cross-sectional study was conducted at a secondary level rural hospital in patients attending medicine OPD. After obtaining informed consent, demographic information was collected from consecutive adult patients along with 3 ml blood sample for Vitamin D analysis using electro chemiluminescene on cobas elecys E411 fully automated system...
January 2017: Indian Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28216561/maternal-vitamin-d-status-in-the-late-second-trimester-and-the-risk-of-severe-preeclampsia-in-southeastern-china
#19
Xin Zhao, Rui Fang, Renqiang Yu, Daozhen Chen, Jun Zhao, Jianping Xiao
The association between maternal vitamin D deficiency and the risk of severe preeclampsia is still debated. In the present study, we aimed to evaluate vitamin D status in Chinese pregnant women and investigate its correlation with the odds of developing severe preeclampsia. A cohort study was performed on 13,806 pregnant women who routinely visited the antenatal care clinics and subsequently delivered at the Wuxi Maternity and Child Health Hospital. All the subjects in the cohort had their serum 25-hydroxyvitamin D (25(OH)D) concentrations measured during pregnancy...
February 14, 2017: Nutrients
https://www.readbyqxmd.com/read/28216434/human-nlrp3-inflammasome-activity-is-regulated-by-and-potentially-targetable-via-btk
#20
Xiao Liu, Tica Pichulik, Olaf-Oliver Wolz, Truong-Minh Dang, Andrea Stutz, Carly Dillen, Magno Delmiro Garcia, Helene Kraus, Sabine Dickhöfer, Ellen Daiber, Lisa Münzenmayer, Silke Wahl, Nikolaus Rieber, Jasmin Kümmerle-Deschner, Amir Yazdi, Mirita Franz-Wachtel, Boris Macek, Markus Radsak, Sebastian Vogel, Berit Schulte, Juliane Sarah Walz, Dominik Hartl, Eicke Latz, Stephan Stilgenbauer, Bodo Grimbacher, Lloyd Miller, Cornelia Brunner, Christiane Wolz, Alexander N R Weber
BACKGROUND: The Nod-like receptor, NACHT, LRR and PYD domains-containing protein 3 (NLRP3), and Bruton's tyrosine kinase (BTK) are protagonists in innate and adaptive immunity, respectively: NLRP3 senses exogenous and endogenous insults leading to inflammasome activation, which occurs spontaneously in Muckle-Wells Syndrome (MWS); BTK mutations cause the genetic immunodeficiency X-linked agammaglobulinemia (XLA). However, to date few proteins that regulate NLRP3 inflammasome activity in human primary immune cells have been identified and clinically promising pharmacological targeting strategies remain elusive...
February 16, 2017: Journal of Allergy and Clinical Immunology
keyword
keyword
67759
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"