keyword
MENU ▼
Read by QxMD icon Read
search

AT-3 deficiency

keyword
https://www.readbyqxmd.com/read/27913923/actn3-x-allele-carriers-had-greater-levels-of-muscle-damage-during-a-half-ironman
#1
Juan Del Coso, Juan José Salinero, Beatriz Lara, César Gallo-Salazar, Francisco Areces, Carlos Puente, David Herrero
PURPOSE: Alpha-actinin-3, encoded by the ACTN3 gene, is an actin-binding protein with an important role in myofibril contraction and muscle force output. In humans, there is a relatively common deficiency of the α-actinin-3 due to homozygosity in a polymorphism of the ACTN3 gene (R577X, rs1815739), that has been related to decreased resistance to strain during voluntary muscle contractions. The purpose of this study was to investigate the influence of the ACTN3 genotype on the level of exercise-induced muscle damage attained by 23 experienced triathletes during an official half-ironman competition...
December 2, 2016: European Journal of Applied Physiology
https://www.readbyqxmd.com/read/27913632/intracellular-activation-of-complement-3-is-responsible-for-intestinal-tissue-damage-during-mesenteric-ischemia
#2
Abhigyan Satyam, Lakshmi Kannan, Naoya Matsumoto, Mayya Geha, Peter H Lapchak, Robin Bosse, Guo-Ping Shi, Jurandir J Dalle Lucca, Maria G Tsokos, George C Tsokos
Intestinal ischemia followed by reperfusion leads to local and remote organ injury attributed to inflammatory response during the reperfusion phase. The extent to which ischemia contributes to ischemia/reperfusion injury has not been thoroughly studied. After careful evaluation of intestinal tissue following 30 min of ischemia, we noticed significant local mucosal injury in wild-type mice. This injury was drastically reduced in C3-deficient mice, suggesting C3 involvement. Depletion of circulating complement with cobra venom factor eliminated, as expected, injury recorded at the end of the reperfusion phase but failed to eliminate injury that occurred during the ischemic phase...
December 2, 2016: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/27911782/egfr-signaling-is-critical-for-maintaining-the-superficial-layer-of-articular-cartilage-and-preventing-osteoarthritis-initiation
#3
Haoruo Jia, Xiaoyuan Ma, Wei Tong, Basak Doyran, Zeyang Sun, Luqiang Wang, Xianrong Zhang, Yilu Zhou, Farid Badar, Abhishek Chandra, X Lucas Lu, Yang Xia, Lin Han, Motomi Enomoto-Iwamoto, Ling Qin
Osteoarthritis (OA) is the most common joint disease, characterized by progressive destruction of the articular cartilage. The surface of joint cartilage is the first defensive and affected site of OA, but our knowledge of genesis and homeostasis of this superficial zone is scarce. EGFR signaling is important for tissue homeostasis. Immunostaining revealed that its activity is mostly dominant in the superficial layer of healthy cartilage but greatly diminished when OA initiates. To evaluate the role of EGFR signaling in the articular cartilage, we studied a cartilage-specific Egfr-deficient (CKO) mouse model (Col2-Cre EgfrWa5/flox)...
November 28, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27911610/successful-consecutive-expansion-of-limbal-explants-using-a-biosafe-culture-medium-under-feeder-layer-free-conditions
#4
Marina López-Paniagua, Teresa Nieto-Miguel, Ana de la Mata, Sara Galindo, José M Herreras, Rosa M Corrales, Margarita Calonge
PURPOSE: Transplantation of in vitro cultured limbal epithelial stem cells (LESCs) is a treatment widely used for LESC deficiency. However, the number of limbal tissue donors is limited, and protocols for LESC cultivation often include compounds and/or feeder layers that can induce side effects and/or increase the cost of the culture procedure. We investigated the feasibility of obtaining more than one limbal primary culture (LPC) from the same biopsy using a culture medium in which several potentially harmful compounds were replaced at the same time by biosafe supplements, allowing the LESC cultivation without feeder layers...
December 2, 2016: Current Eye Research
https://www.readbyqxmd.com/read/27911110/mannose-binding-lectin-deficiency-in-brazilian-patients-with-spondyloarthritis
#5
Thelma L Skare, Renato Nisihara, Juliana Z Cieslinski, João O Zeni, Henrique N Rasera, Iara Messias-Reason, Shirley R R Utiyama
BACKGROUND: Infections are usually involved in the pathogenesis of spondyloarthritis (SpA). Mannose-binding lectin (MBL) is a component of the innate immune system with an important role in microbial defense. OBJECTIVE: To study the prevalence of MBL deficiency in SpA patients as well as its influence in the clinical profile of these diseases. METHODS: We studied 89 SpA patients and 89 healthy individuals, paired for age and gender. MBL serum levels were measured by ELISA test...
December 2, 2016: Immunological Investigations
https://www.readbyqxmd.com/read/27908594/rucaparib-in-relapsed-platinum-sensitive-high-grade-ovarian-carcinoma-ariel2-part-1-an-international-multicentre-open-label-phase-2-trial
#6
Elizabeth M Swisher, Kevin K Lin, Amit M Oza, Clare L Scott, Heidi Giordano, James Sun, Gottfried E Konecny, Robert L Coleman, Anna V Tinker, David M O'Malley, Rebecca S Kristeleit, Ling Ma, Katherine M Bell-McGuinn, James D Brenton, Janiel M Cragun, Ana Oaknin, Isabelle Ray-Coquard, Maria I Harrell, Elaina Mann, Scott H Kaufmann, Anne Floquet, Alexandra Leary, Thomas C Harding, Sandra Goble, Lara Maloney, Jeff Isaacson, Andrew R Allen, Lindsey Rolfe, Roman Yelensky, Mitch Raponi, Iain A McNeish
BACKGROUND: Poly(ADP-ribose) polymerase (PARP) inhibitors have activity in ovarian carcinomas with homologous recombination deficiency. Along with BRCA1 and BRCA2 (BRCA) mutations genomic loss of heterozygosity (LOH) might also represent homologous recombination deficiency. In ARIEL2, we assessed the ability of tumour genomic LOH, quantified with a next-generation sequencing assay, to predict response to rucaparib, an oral PARP inhibitor. METHODS: ARIEL2 is an international, multicentre, two-part, phase 2, open-label study done at 49 hospitals and cancer centres in Australia, Canada, France, Spain, the UK, and the USA...
November 28, 2016: Lancet Oncology
https://www.readbyqxmd.com/read/27908399/serum-copper-concentrations-in-hospitalized-newborns
#7
Ricardo González-Tarancón, Luisa Calvo-Ruata, Maite Aramendía, Carmen Ortega, Elena García-González, Luis Rello
BACKGROUND: Low serum Cu and ceruloplasmin (Cp) concentrations in newborns can be the first indication of a severe Cu deficient intake or, alternatively, of genetic diseases affecting Cu metabolism. However, Cu and Cp concentrations can also be influenced by other variables that render their quantitative results difficult to interpret. Therefore, it is necessary to identify these variables and stratify Cu and Cp concentrations according to these altering factors. METHODS: Serum Cu and Cp concentrations for 564 hospitalized newborns (0-12days of life) are stratified according to their age, prematurity (birth weight or gestational age), type of feeding and inflammatory state (assessed by the serum high sensitivity C-reactive protein (hs-CRP) level) to identify potential correlations...
January 2017: Journal of Trace Elements in Medicine and Biology
https://www.readbyqxmd.com/read/27907204/homologous-recombination-and-translesion-dna-synthesis-play-critical-roles-on-tolerating-dna-damage-caused-by-trace-levels-of-hexavalent-chromium
#8
Xu Tian, Keyur Patel, John R Ridpath, Youjun Chen, Yi-Hui Zhou, Dayna Neo, Jean Clement, Minoru Takata, Shunichi Takeda, Julian Sale, Fred A Wright, James A Swenberg, Jun Nakamura
Contamination of potentially carcinogenic hexavalent chromium (Cr(VI)) in the drinking water is a major public health concern worldwide. However, little information is available regarding the biological effects of a nanomoler amount of Cr(VI). Here, we investigated the genotoxic effects of Cr(VI) at nanomoler levels and their repair pathways. We found that DNA damage response analyzed based on differential toxicity of isogenic cells deficient in various DNA repair proteins is observed after a three-day incubation with K2CrO4 in REV1-deficient DT40 cells at 19...
2016: PloS One
https://www.readbyqxmd.com/read/27906970/poor-compliance-to-hormone-therapy-and-decreased-bone-mineral-density-in-women-with-premature-ovarian-insufficiency
#9
Anne Bachelot, Carole Nicolas, Solenne Gricourt, Jérôme Dulon, Monique Leban, Jean Louis Golmard, Philippe Touraine
Premature ovarian insufficiency leads to through infertility and estrogen deficiency. Optimal management encompasses estrogen replacement therapy. Long-term outcome of women with POI is not known. We design a study to evaluate the medical care, hormone replacement therapy compliance and bone mineral density (BMD) in POI women with at least a five-year follow-up after the first evaluation. One hundred and sixty-two patients (37.3±8.0 years) were evaluated (follow-up 7.9±2.8 years). Sixty-nine patients (42...
2016: PloS One
https://www.readbyqxmd.com/read/27906622/sensitive-liquid-chromatography-mass-spectrometry-lc-ms-assay-reveals-novel-insights-on-dna-methylation-and-incorporation-of-gemcitabine-its-metabolite-difluorodeoxyuridine-deoxyuridine-and-rx-3117-into-dna
#10
Richard J Honeywell, Dzjemma Sarkisjan, Ietje Kathmann, Michael H Kristensen, Godefridus J Peters
Antimetabolites are incorporated into DNA and RNA, affecting their function. Liquid-chromatography-mass-spectrometry (LC-MS-MS) permits the sensitive, selective analysis of normal nucleosides. The method was adapted to measure the incorporation of deoxyuridine, gemcitabine (difluorodeoxycytidine), its metabolite difluorodeoxyuridine (dFdU), and the novel compound fluorocyclopentenylcytosine (RX3117). DNA was degraded to its deoxynucleotides for quantification by LC-MS-MS, gradient chromatography on a Phenomenex prodigy-3-ODS with positive ionization...
December 2016: Nucleosides, Nucleotides & Nucleic Acids
https://www.readbyqxmd.com/read/27906547/late-diagnosis-of-pomc-deficiency-and-in-vitro-evidence-of-residual-translation-from-allele-with-c-11c-a-mutation
#11
Aleksandra S Anisimova, Petr M Rubtsov, Kseniya A Akulich, Sergey E Dmitriev, Elena Frolova, Anatoly Tiulpakov
CONTEXT: Loss-of-function mutations in the POMC gene are associated with the syndrome of adrenal insufficiency, obesity and red hair. We describe here a case of POMC deficiency, in which adrenal insufficiency was not treated until the fourth year of life. One of the disease-causative POMC mutations was characterized in vitro using a new approach. CASE DESCRIPTION: A boy presented in the first year of life with red hair, growth acceleration, moderate obesity and recurrent cholestasis, which was followed by two episodes of hypoglycemia at ages of 1...
December 1, 2016: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27905124/assessment-of-early-atherosclerosis-and-left-ventricular-dysfunction-in-children-with-21-hydroxylase-deficiency
#12
Rahmi Özdemir, Hüseyin Anil Korkmaz, Mehmet Küçük, Cem Karadeniz, Timur Meşe, Behzat Özkan
AIM: We analysed 25 children with 21-hydroxylase deficiency who received glucocorticoid and/or mineralocorticoid treatment for at least 12 months to determine the effects of the disease and its treatment on vascular structures and ventricular function. METHODS: Twenty-five patients with 21-hydroxylase-deficient congenital adrenal hyperplasia (CAH) and 25 control subjects were enrolled into this observational, cross-sectional study. The patients were investigated in terms of fasting blood glucose and insulin; fasting serum lipid profile; serum 17-hydroxyprogesterone; dehydroepiandrosterone sulphate; androstenedione; and adrenocorticotropic hormone...
November 7, 2016: Clinical Endocrinology
https://www.readbyqxmd.com/read/27902462/the-synthetic-lethal-killing-of-rad54b-deficient-colorectal-cancer-cells-by-parp1-inhibition-is-enhanced-with-sod1-inhibition
#13
Erin N McAndrew, Chloe C Lepage, Kirk J McManus
Colorectal cancer (CRC) is a leading cause of cancer-related death throughout the world. Despite improved screening efforts, most CRCs are diagnosed at late stages when surgery alone is not curative. Moreover, the low 5-year survival rate (~8-13%) for those living with stage IV CRC highlights the need for better treatment options. Many current chemotherapeutic approaches are non-specific and associated with side effects due to their tendency to target both normal and cancer cells. To address this issue, synthetic lethal (SL) approaches are now being explored in cancer and are defined as the lethal combination of two independently viable mutations/deletions...
November 26, 2016: Oncotarget
https://www.readbyqxmd.com/read/27900407/do-inhibitors-of-crystallisation-play-any-role-in-the-prevention-of-kidney-stones-a-critique
#14
REVIEW
William G Robertson
A critical examination of data in the literature and in as yet unpublished laboratory records on the possible role of so-called inhibitors of crystallisation in preventing the formation of calcium-containing kidney stones leads to the following conclusions. So-called inhibitors of spontaneous "self-nucleation" are unlikely to play any role in the initiation of the crystallisation of CaOx or CaP in urine because excessive urinary supersaturation of urine with respect to these salts dominates the onset of "self-nucleation" within the normal time frame of the transit of tubular fluid through the nephron (3-4 min)...
November 29, 2016: Urolithiasis
https://www.readbyqxmd.com/read/27898926/assessment-of-serum-25-hydroxyvitamin-d-concentrations-of-beef-cows-and-calves-across-seasons-and-geographical-locations
#15
C D Nelson, J L Powell, D M Price, M J Hersom, J V Yelich, M E Drewnoski, S L Bird, G Allen Bridges
Vitamin D is critical for the growth and development of calves and positively contributes to immune function of cattle. Serum 25-hydroxyvitamin D (25(OH)D) concentrations above 20 ng/mL have traditionally been considered adequate for growth and development of cattle, but recent evidence has indicated that concentrations below 30 ng/mL are insufficient for immunity. Because little information is available regarding vitamin D status of beef cattle, the objective of this study was to evaluate vitamin D status of beef cow-calf herds on pasture as affected by season and location...
September 2016: Journal of Animal Science
https://www.readbyqxmd.com/read/27898216/characterization-of-prostacyclin-associated-leg-pain-in-patients-with-pulmonary-arterial-hypertension
#16
Gabriel L Pagani-Estévez, Keith M Swetz, Michael D McGoon, Robert P Frantz, Susan K Tointon, Ann M Karnyski, Louise A Durst, James C Watson
RATIONALE: Prostacyclin-associated leg pain is a potentially debilitating adverse effect of prostacyclin therapy for patients with pulmonary arterial hypertension (PAH). However, to our knowledge, this entity has not been systematically studied. OBJECTIVE: To characterize the clinical features and metabolic risk factors for prostacyclinassociated leg pain. METHODS: At one academic medical center we assembled and analyzed a case series of patients with PAH and prostacyclin-associated leg pain...
November 29, 2016: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/27897031/abnormal-coupling-between-dmn-and-delta-and-beta-band-eeg-in-psychotic-patients
#17
Anja Baenninger, Vanessa A Palzes, Brian J Roach, Daniel H Mathalon, Judith Ford, Thomas Koenig
Common-phase synchronization of neuronal oscillations is a mechanism by which distributed brain regions can be integrated into transiently stable networks. Based on the hypothesis that schizophrenia is characterized by deficits in functional integration within neuronal networks, this study aimed to explore whether psychotic patients exhibit differences in brain regions involved in integrative mechanisms. We report an EEG-informed fMRI analysis of eyes-open resting state data collected from patients and healthy controls at two study sites...
November 29, 2016: Brain Connectivity
https://www.readbyqxmd.com/read/27896919/duration-of-exclusive-breastfeeding-is-a-positive-predictor-of-iron-status-in-6-to-10-month-old-infants-in-rural-kenya
#18
Mary A Uyoga, Simon Karanja, Daniela Paganini, Colin I Cercamondi, Sophie A Zimmermann, Benjamin Ngugi, Penny Holding, Diego Moretti, Michael B Zimmermann
BACKGROUND: The prevalence of iron-deficiency anemia (IDA) is high in infants in Sub-Saharan Africa. Exclusive breastfeeding of infants to 6 months of age is recommended by the World Health Organization, but breast milk is low in iron. Some studies suggest exclusive breastfeeding, although beneficial for the infant, may increase risk for IDA in resource-limited settings. OBJECTIVE: To determine if duration of exclusive breastfeeding is associated with anemia and iron deficiency in rural Kenyan infants...
November 29, 2016: Maternal & Child Nutrition
https://www.readbyqxmd.com/read/27896489/effects-of-iron-on-physical-and-mechanical-properties-and-osteoblast-cell-interaction-in-%C3%AE-tricalcium-phosphate
#19
Sahar Vahabzadeh, Susmita Bose
Iron (Fe) is a vital element and its deficiency causes abnormal bone metabolism. We investigated the effects of Fe and its concentration in β-tricalcium phosphate (β-TCP) on physicomechanical properties and in vitro proliferation and differentiation of osteoblasts. Our results showed that Fe addition at concentrations of 0.5 wt.% (0.5 Fe-TCP) and 1.0 wt.% (1.0 Fe-TCP) inhibits the β-TCP to α-TCP phase transformation at sintering temperature of 1250 °C. Addition of 0.25 wt.% Fe (0.25 Fe-TCP) increased the compressive strength of β-TCP from 167...
November 28, 2016: Annals of Biomedical Engineering
https://www.readbyqxmd.com/read/27896396/metabolic-profiling-of-ob-ob-mouse-fatty-liver-using-hr-mas-1-h-nmr-combined-with-gene-expression-analysis-reveals-alterations-in-betaine-metabolism-and-the-transsulfuration-pathway
#20
Mikheil Gogiashvili, Karolina Edlund, Kathrin Gianmoena, Rosemarie Marchan, Alexander Brik, Jan T Andersson, Jörg Lambert, Katrin Madjar, Birte Hellwig, Jörg Rahnenführer, Jan G Hengstler, Roland Hergenröder, Cristina Cadenas
Metabolic perturbations resulting from excessive hepatic fat accumulation are poorly understood. Thus, in this study, leptin-deficient ob/ob mice, a mouse model of fatty liver disease, were used to investigate metabolic alterations in more detail. Metabolites were quantified in intact liver tissues of ob/ob (n = 8) and control (n = 8) mice using high-resolution magic angle spinning (HR-MAS) (1)H-NMR. In addition, after demonstrating that HR-MAS (1)H-NMR does not affect RNA integrity, transcriptional changes were measured by quantitative real-time PCR on RNA extracted from the same specimens after HR-MAS (1)H-NMR measurements...
November 28, 2016: Analytical and Bioanalytical Chemistry
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"