keyword
MENU ▼
Read by QxMD icon Read
search

factor deficiency

keyword
https://www.readbyqxmd.com/read/29151085/a-novel-mutation-in-the-critical-p-box-residue-of-steroidogenic-factor-1-presenting-with-xy-sex-reversal-and-transient-adrenal-failure
#1
Anna S Orekhova, Natalia Kalinchenko, Ivan A Morozov, Evgeny V Vasilyev, Petr M Rubtsov, Ivan I Dedov, Anatoly Tiulpakov
BACKGROUND: Although the importance of steroidogenic factor-1 (SF1, NR5A1) for adrenal development is supported by numerous in vitro and in vivo studies, cases of SF1 deficiency associated with adrenal failure are exceptionally rare. The first human NR5A1 mutation was a heterozygous de novo p.G35E variant identified in a patient with disorder of sex development (DSD) 46,XY and primary adrenal insufficiency. Here we describe another association of the "classic" SF1 phenotype with a novel NR5A1 mutation affecting G35 residue...
November 17, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29150834/il-22-neutralizing-autoantibodies-impair-fungal-clearance-in-murine-oropharyngeal-candidiasis-model
#2
Rudolf Bichele, Jaanika Kärner, Kai Truusalu, Imbi Smidt, Reet Mändar, Heather R Conti, Sarah L Gaffen, Pärt Peterson, Martti Laan, Kai Kisand
Protection against mucocutaneous candidiasis depends on the T helper (Th)17 pathway, as gene defects affecting its integrity result in inability to clear Candida albicans infection on body surfaces. Moreover, autoantibodies neutralizing Th17 cytokines have been related to chronic candidiasis in a rare inherited disorder called autoimmune polyendocriopathy candidiasis ectodermal dystrophy (APECED) caused by mutations in autoimmune regulator (AIRE) gene. However, the direct pathogenicity of these autoantibodies has not yet been addressed...
November 17, 2017: European Journal of Immunology
https://www.readbyqxmd.com/read/29150792/correlation-between-mgmt-promoter-methylation-and-response-to-temozolomide-based-therapy-in-neuroendocrine-neoplasms-an-observational-retrospective-multicenter-study
#3
Davide Campana, Thomas Walter, Sara Pusceddu, Fabio Gelsomino, Emmanuelle Graillot, Natalie Prinzi, Andrea Spallanzani, Michelangelo Fiorentino, Marc Barritault, Filippo Dall'Olio, Nicole Brighi, Guido Biasco
PURPOSE: Temozolomide (TEM) based therapy has been reported being effective in the treatment of metastatic neuroendocrine neoplasms (NEN), with response rates ranging from 30 to 70%. Among patients affected by advanced glioblastoma or melanoma and treated with TEM, loss of tumoral O6-methylguanine DNA methyltransferase (MGMT) is correlated with improved survival. In NEN patients, the role of MGMT deficiency in predicting clinical outcomes of TEM treatment is still under debate. METHODS: In this study we evaluated 95 patients with advanced NENs undergoing treatment with TEM-based therapy...
November 17, 2017: Endocrine
https://www.readbyqxmd.com/read/29150563/nfat5-regulated-macrophage-polarization-supports-the-proinflammatory-function-of-macrophages-and-t-lymphocytes
#4
Mónica Tellechea, Maria Buxadé, Sonia Tejedor, Jose Aramburu, Cristina López-Rodríguez
Macrophages are exquisite sensors of tissue homeostasis that can rapidly switch between pro- and anti-inflammatory or regulatory modes to respond to perturbations in their microenvironment. This functional plasticity involves a precise orchestration of gene expression patterns whose transcriptional regulators have not been fully characterized. We had previously identified the transcription factor NFAT5 as an activator of TLR-induced responses, and in this study we explore its contribution to macrophage functions in different polarization settings...
November 17, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/29150522/addressing-decisional-conflict-about-fertility-preservation-helping-young-female-cancer-survivors-family-planning-decisions
#5
Madleina Müller, Corinne Urech, Jacky Boivin, Verena Ehrbar, Rebecca Moffat, Rosanna Zanetti Daellenbach, Christoph Rochlitz, Sibil Tschudin
BACKGROUND: Health professionals are challenged by a growing number of young long-term cancer survivors with their specific needs with regard to family planning. This study aimed at assessing decisional conflict (DC) in young female cancer patients regarding fertility preservation, identifying demographic, fertility and fertility preservation related factors, which may affect DC, and assessing the helpfulness of various decision-supports. METHODS: A retrospective, cross-sectional, web-based survey via an online questionnaire available in three languages with specific items concerning cancer, fertility, fertility preservation and the validated Decisional Conflict Scale targeted at current or former female cancer patients aged 18-45 years, with cancer types or treatment potentially affecting reproductive function...
November 17, 2017: Journal of Family Planning and Reproductive Health Care
https://www.readbyqxmd.com/read/29150501/glna-truncation-in-salmonella-enterica-results-in-a-small-colony-variant-phenotype-attenuated-host-cell-entry-and-reduced-expression-of-flagellin-and-spi-1-associated-effector-genes
#6
Philipp Aurass, Juliane Düvel, Susanne Karste, Ulrich Nübel, Wolfgang Rabsch, Antje Flieger
Many pathogenic bacteria use sophisticated survival strategies to overcome harsh environmental conditions. One is the formation of slow-growing subpopulations termed small colony variants (SCVs). Here we characterize an SCV, which spontaneously emerged from an axenic Salmonella enterica serovar Typhimurium water culture. We found that the SCV harbors a frameshift mutation in the glutamine synthetase gene glnA leading to a ∼90% truncation of the corresponding protein. Glutamine synthetase, a central enzyme in nitrogen assimilation, converts glutamate and ammonia to glutamine...
November 17, 2017: Applied and Environmental Microbiology
https://www.readbyqxmd.com/read/29150284/the-displacing-foods-of-modern-commerce-are-the-primary-and-proximate-cause-of-age-related-macular-degeneration-a-unifying-singular-hypothesis
#7
Chris A Knobbe, Marija Stojanoska
Age-related macular degeneration (AMD) is the leading cause of irreversible vision loss and blindness in developed nations. AMD is anticipated to affect 196 million people worldwide, by 2020. However, the etiology of this disease remains unknown. Aging, genetic, and environmental influences have generally been implicated as major etiologic factors. We sought to examine the hypothesis that consumption of the 'displacing foods of modern commerce,' which equate to processed, nutrient-deficient and potentially toxic foods, may be the primary and proximate cause of AMD...
November 2017: Medical Hypotheses
https://www.readbyqxmd.com/read/29150182/mature-hippocampal-neurons-require-lis1-for-synaptic-integrity-implications-for-cognition
#8
Anamaria Sudarov, Xin-Jun Zhang, Leighton Braunstein, Eve LoCastro, Shawn Singh, Yu Taniguchi, Ashish Raj, Song-Hai Shi, Holly Moore, M Elizabeth Ross
BACKGROUND: Platelet-activating factor acetylhydrolase 1B1 (LIS1), a critical mediator of neuronal migration in developing brain, is expressed throughout life. However, relatively little is known about LIS1 function in the mature brain. We previously demonstrated that LIS1 involvement in the formation and turnover of synaptic protrusions and synapses of young brain after neuronal migration is complete. Here we examine the requirement for LIS1 to maintain hippocampal circuit function in adulthood...
September 23, 2017: Biological Psychiatry
https://www.readbyqxmd.com/read/29150153/-dermatologic-surgery-hemophilia-and-von-willebrand-disease
#9
M Say, N Dupin, N Stieltjes, M-F Avril, S Aractingi, J Chanal
BACKGROUND: Von Willebrand disease (VWD) and hemophilia A and B are the most common types of hereditary coagulation-factor deficiencies. The frequency and type of complications of skin surgery in these patients are unknown. The increasing incidence of skin cancer prompted us to reflect upon this issue. While the incidence of skin cancer is increasing, the complications of skin surgery or ablative laser treatment remain unknown in this population. AIM: The aim of this study was to determine the frequency of bleeding complications during and after skin surgery in patients with a hereditary coagulation-factor deficiency (hemophilia or VWD)...
November 14, 2017: Annales de Dermatologie et de Vénéréologie
https://www.readbyqxmd.com/read/29150108/economy-class-syndrome-what-is-it-and-who-are-the-individuals-at-risk
#10
Luci Maria SantAna Dusse, Marcos Vinícius Ferreira Silva, Letícia Gonçalves Freitas, Milena Soriano Marcolino, Maria das Graças Carvalho
The term 'economy class syndrome' refers to the occurrence of thrombotic events during long-haul flights that mainly occur in passengers in the economy class of the aircraft. This syndrome results from several factors related to the aircraft cabin (immobilization, hypobaric hypoxia and low humidity) and the passenger (body mass index, thrombophilia, oral contraceptives or hormone replacement therapy, cancer), acting together to predispose to excessive blood coagulation, which can result in venous thromboembolism...
October 2017: Revista Brasileira de Hematologia e Hemoterapia
https://www.readbyqxmd.com/read/29149966/seasonal-variation-of-vitamin-d-status-in-long-term-kidney-transplant-recipients
#11
J Wilimborek, M Nowicki, I Kurnatowska
BACKGROUND: There is little information about circannual rhythm of vitamin D level in kidney transplantation (KTx) patients. MATERIAL AND METHODS: In 71 patients (27 females; 44 males) in the long term after KTx (5.5 ± 2.6 years) during the winter and summer months plasma concentration of 25-hydroxyvitamin D (25(OH)D), 1,25-hydroxyvitamin D, parathormone (PTH), fibroblast growth factor 23 (FGF-23), calcium, and phosphorus were assessed. Vitamin D status was classified according to 25(OH)D level (ie, insufficiency, ≤30 ng/mL; deficiency, <15 ng/mL)...
November 2017: Transplantation Proceedings
https://www.readbyqxmd.com/read/29149877/key-bottlenecks-to-the-provision-of-safe-obstetric-anaesthesia-in-low-income-countries-a-cross-sectional-survey-of-64-hospitals-in-uganda
#12
Isabella Epiu, Agnes Wabule, Andrew Kambugu, Harriet Mayanja-Kizza, Jossy Verel Bahe Tindimwebwa, Gerald Dubowitz
BACKGROUND: Despite recent advances in surgery and anaesthesia which significantly improve safety, many health facilities in low-and middle-income countries (LMICs) remain chronically under-resourced with inability to cope effectively with serious obstetric complications (Knight et al., PLoS One 8:e63846, 2013). As a result many of these countries still have unacceptably high maternal and neonatal mortality rates. Recent data at the national referral hospitals in East Africa reported that none of the national referral hospitals met the World Federation of Societies of Anesthesiologists (WFSA) international standards required to provide safe obstetric anaesthesia (Epiu I: Challenges of Anesthesia in Low-and Middle-Income Countries...
November 17, 2017: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/29149759/dusp1-alleviates-cardiac-ischemia-reperfusion-injury-by-suppressing-the-mff-required-mitochondrial-fission-and-bnip3-related-mitophagy-via-the-jnk-pathways
#13
Qinhua Jin, Ruibing Li, Nan Hu, Ting Xin, Pingjun Zhu, Shunying Hu, Sai Ma, Hong Zhu, Jun Ren, Hao Zhou
Mitochondrial fission and selective mitochondrial autophagy (mitophagy) form an essential axis of mitochondrial quality control that plays a critical role in the development of cardiac ischemia-reperfusion (IR) injury. However, the precise upstream molecular mechanism of fission/mitophagy remains unclear. Dual-specificity protein phosphatase1 (DUSP1) regulates cardiac metabolism, but its physiological contribution in the reperfused heart, particularly its influence on mitochondrial homeostasis, is unknown. Here, we demonstrated that cardiac DUSP1 was downregulated following acute cardiac IR injury...
November 6, 2017: Redox Biology
https://www.readbyqxmd.com/read/29149705/toll-like-receptor-4-deficiency-increases-resistance-in-sepsis-induced-immune-dysfunction
#14
Chao Cao, Yanfen Chai, Songtao Shou, Jun Wang, Ying Huang, Tao Ma
Sepsis constitutes a serious life-threatening syndrome associated with complications of deregulated inflammatory response against endotoxin/lipopolysaccharide (LPS)-mediated severe infection. Toll-like receptor 4 (TLR4) plays a critical role in the activation of innate immunity through recognition of LPS. However, the impact of TLR4 signaling on the development of sepsis-induced immune dysfunction remains unclear. The aim of this study was to investigate the effect of TLR4 on regulatory T cells (Tregs) and its potential mechanism...
November 14, 2017: International Immunopharmacology
https://www.readbyqxmd.com/read/29149604/nrf1-is-an-er-membrane-sensor-that-is-central-to-cholesterol-homeostasis
#15
Scott B Widenmaier, Nicole A Snyder, Truc B Nguyen, Alessandro Arduini, Grace Y Lee, Ana Paula Arruda, Jani Saksi, Alexander Bartelt, Gökhan S Hotamisligil
Cholesterol is a critical nutrient requiring tight constraint in the endoplasmic reticulum (ER) due to its uniquely challenging biophysical properties. While the mechanisms by which the ER defends against cholesterol insufficiency are well described, it remains unclear how the ER senses and effectively defends against cholesterol excess. Here, we identify the ER-bound transcription factor nuclear factor erythroid 2 related factor-1, Nrf1/Nfe2L1, as a critical mediator of this process. We show that Nrf1 directly binds to and specifically senses cholesterol in the ER through a defined domain and that cholesterol regulates Nrf1 turnover, processing, localization, and activity...
November 16, 2017: Cell
https://www.readbyqxmd.com/read/29149101/how-does-p53-induce-apoptosis-and-how-does-this-relate-to-p53-mediated-tumour-suppression
#16
REVIEW
Brandon J Aubrey, Gemma L Kelly, Ana Janic, Marco J Herold, Andreas Strasser
The tumour suppressor gene TP53 is mutated in ~50% of human cancers. In addition to its function in tumour suppression, p53 also plays a major role in the response of malignant as well as nontransformed cells to many anticancer therapeutics, particularly those that cause DNA damage. P53 forms a homotetrameric transcription factor that is reported to directly regulate ~500 target genes, thereby controlling a broad range of cellular processes, including cell cycle arrest, cell senescence, DNA repair, metabolic adaptation and cell death...
November 17, 2017: Cell Death and Differentiation
https://www.readbyqxmd.com/read/29148171/identification-and-expression-profiling-of-pht1-phosphate-transporters-in-wheat-in-controlled-environments-and-in-the-field
#17
A Grün, P Buchner, M R Broadley, M J Hawkesford
Phosphorus (P) is an important macronutrient with critical functions in plants. Phosphate (Pi) transporters which mediate Pi acquisition and Pi translocation within the plant are key factors in Pi deficiency responses. However, their relevance for adaptation to long-term Pi limitation under agronomic conditions, particularly in wheat, remains unknown. Here, we describe the identification of the complete Pi transporter gene family (Pht1) in wheat (Triticum aestivum). Gene expression profiles were compared for hydroponic and field-grown plant tissues of wheat at multiple developmental stages...
November 17, 2017: Plant Biology
https://www.readbyqxmd.com/read/29147931/horses-for-courses-moving-india-towards-universal-health-coverage-through-targeted-policy-design
#18
Dayashankar Maurya, Altaf Virani, S Rajasulochana
The debate on how India's health system should move towards universal health coverage was (meant to be) put to rest by the recent National Health Policy 2017. However, the new policy is silent about tackling bottlenecks mentioned in the said policy proposal. It aims to provide universal access to free primary care by strengthening the public system, and to secondary and tertiary care through strategic purchasing from the private sector, to overcome deficiencies in public provisioning in the short run. Yet, in doing so, it ignores critical factors needed to replicate successful models of public healthcare delivery from certain states that it hopes to emulate...
November 16, 2017: Applied Health Economics and Health Policy
https://www.readbyqxmd.com/read/29147584/il-33-acts-to-express-schaffer-collateral-ca1-ltp-and-regulate-learning-and-memory-by-targeting-myd88
#19
Tomoyuki Nishizaki
Interleukin-33 (IL-33) is recognized to transmit a signal through a heterodimeric receptor complex ST2/interleukin-1 receptor accessory protein (IL-1RAcP) bearing activation of myeloid differentiation factor 88 (MyD88). High-frequency stimulation to the Schaffer collateral induced long-term potentiation (LTP) in the CA1 region of hippocampal slices from wild-type control mice. Schaffer collateral/CA1 LTP in IL-33-deficient mice was significantly suppressed, which was neutralized by application with IL-33. Similar suppression of the LTP was found with MyD88-deficient mice but not with ST2-deficient mice...
2017: Neural Plasticity
https://www.readbyqxmd.com/read/29147054/service-readiness-of-health-facilities-in-bangladesh-haiti-kenya-malawi-namibia-nepal-rwanda-senegal-uganda-and-the-united-republic-of-tanzania
#20
Hannah H Leslie, Donna Spiegelman, Xin Zhou, Margaret E Kruk
Objective: To evaluate the service readiness of health facilities in Bangladesh, Haiti, Kenya, Malawi, Namibia, Nepal, Rwanda, Senegal, Uganda and the United Republic of Tanzania. Methods: Using existing data from service provision assessments of the health systems of the 10 study countries, we calculated a service readiness index for each of 8443 health facilities. This index represents the percentage availability of 50 items that the World Health Organization considers essential for providing health care...
November 1, 2017: Bulletin of the World Health Organization
keyword
keyword
77729
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"