keyword
MENU ▼
Read by QxMD icon Read
search

family systems

keyword
https://www.readbyqxmd.com/read/28324830/chitinase-3-like-1-deficient-donor-splenocytes-accentuated-the-pathogenesis-of-acute-graft-versus-host-diseases-through-regulating-t-cell-expansion-and-type-i-inflammation
#1
Zengyao Li, Jian Gu, Jing Liu, Qin Zhu, Hao Lu, Yunjie Lu, Jianhua Rao, Ling Lu, Xuehao Wang
Acute graft-versus-host disease (aGVHD) is a major complication following transplantation, limiting the success of this therapy. Chitinase 3-like-1 (CHI3L1), a member of the glycosyl hydrolase 18 family, plays a critical role in bacterial infections, allergic disease and a variety of malignancies. Here, we investigated whether CHI3L1 could affect the pathogenesis of aGVHD in a mouse allo-HCT model. In this study, we show that CHI3L1 deficiency in donor T cells increased the severity of aGVHD through enhancing systemic and local inflammation...
March 16, 2017: International Immunopharmacology
https://www.readbyqxmd.com/read/28324300/%C3%AE-synuclein-and-parkinsonism-updates-and-future-perspectives
#2
REVIEW
Kaie Rosborough, Neha Patel, Lorraine V Kalia
Mutations in the SNCA gene, which encodes the α-synuclein protein, were the first discovered genetic causes of familial parkinsonism with Lewy pathology. To date, six different SNCA missense mutations as well as multiplications are known to cause parkinsonism. For this review, we performed a literature search to identify all published cases of SNCA-related parkinsonism to provide an updated summary of the clinical and neuropathological features of parkinsonism due to SNCA mutations. Familial parkinsonism associated with SNCA is rare, but α-synuclein aggregation is a core feature of sporadic parkinsonism, including Parkinson's disease, dementia with Lewy bodies, and multiple system atrophy...
April 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28324246/opinions-of-hearing-parents-about-the-causes-of-hearing-impairment-of-their-children-with-biallelic-gjb2-mutations
#3
Aisen V Solovyev, Lilya U Dzhemileva, Olga L Posukh, Nikolay A Barashkov, Marita S Bady-Khoo, Semen L Lobov, Natalya Yu Popova, Georgii P Romanov, Nikolay N Sazonov, Alexander A Bondar, Igor V Morozov, Mikhail I Tomsky, Sardana A Fedorova, Elza K Khusnutdinova
Hereditary hearing impairment (HI) caused by recessive GJB2 mutations is a frequent sensory disorder. The results of the molecular-based studies of HI are widely used in various genetic test systems. However, the ethical aspects are less described than the genetic aspects. The concerns expressed by individuals from groups with genetic risks must be included in the counseling of patients and their families. For evaluation of subjective opinions of hearing parents about the presumed causes of HI of their children, we analyze the cohort of parents having children with confirmed hereditary HI caused by biallelic recessive GJB2 mutations (in a homozygous or a compound heterozygous state)...
March 21, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28324054/ccdc141-mutations-in-idiopathic-hypogonadotropic-hypogonadism
#4
Ihsan Turan, B Ian Hutchins, Bulent Hacihamdioglu, L Damla Kotan, Fatih Gurbuz, Ayca Ulubay, Eda Mengen, Bilgin Yuksel, Susan Wray, A Kemal Topaloglu
Context: GnRH neurons originate outside the central nervous system in the olfactory placode and migrate into the CNS, becoming integral components of the hypothalamic-pituitary-gonadal axis. Failure of this migration can lead to Idiopathic Hypogonadotropic Hypogonadism (IHH)/Kallmann Syndrome (KS). We have previously shown that CCDC141 knockdown leads to impaired migration of GnRH neurons but not of olfactory receptor neurons. Objective: The aim of this study was to further describe the phenotype and prevalence of CCDC141 mutations in IHH/KS...
January 23, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28324029/vital-directions-for-health-and-health-care-priorities-from-a-national-academy-of-medicine-initiative
#5
Victor J Dzau, Mark B McClellan, J Michael McGinnis, Sheila P Burke, Molly J Coye, Angela Diaz, Thomas A Daschle, William H Frist, Martha Gaines, Margaret A Hamburg, Jane E Henney, Shiriki Kumanyika, Michael O Leavitt, Ruth M Parker, Lewis G Sandy, Leonard D Schaeffer, Glenn D Steele, Pamela Thompson, Elias Zerhouni
Importance: Recent discussion has focused on questions related to the repeal and replacement of portions of the Affordable Care Act (ACA). However, issues central to the future of health and health care in the United States transcend the ACA provisions receiving the greatest attention. Initiatives directed to certain strategic and infrastructure priorities are vital to achieve better health at lower cost. Objectives: To review the most salient health challenges and opportunities facing the United States, to identify practical and achievable priorities essential to health progress, and to present policy initiatives critical to the nation's health and fiscal integrity...
March 21, 2017: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/28323890/establishment-of-transient-gene-expression-systems-in-protoplasts-from-liriodendron-hybrid-mesophyll-cells
#6
Ailing Huo, Zhenyu Chen, Pengkai Wang, Liming Yang, Guangping Wang, Dandan Wang, Suchan Liao, Tielong Cheng, Jinhui Chen, Jisen Shi
Liriodendron is a genus of the magnolia family comprised of two flowering tree species that produce hardwoods of great ecological and economic value. However, only a limited amount of genetic research has been performed on the Liriodendron genus partly because transient or stable transgenic trees have been difficult to produce. In general, transient expression systems are indispensable for rapid, high-throughput screening and systematic characterization of gene functions at a low cost; therefore, development of such a system for Liriodendron would provide a necessary step forward for research on Magnoliaceae and other woody trees...
2017: PloS One
https://www.readbyqxmd.com/read/28323791/obesity-is-associated-with-high-peri-operative-complications-among-surgically-treated-intertrochanteric-fracture-of-the-femur
#7
Harish Kempegowda, Raveesh Richard, Amrut Borade, Akhil Tawari, Graham Jove, Michael Suk, Abby Howenstein, Erik N Kubiak, Vanessa Rojas Sotomayor, Kenneth Koval, Frank A Liporace, Nirmal Tejwani, Daniel S Horwitz
OBJECTIVES: The purpose of this study was to document the complications among obese patients who underwent surgical fixation for intertrochanteric femur fractures and to compare with non-obese patients. DESIGN: Retrospective cohort study SETTING:: Four level I trauma centers. PATIENTS: 1078 intertrochanteric femur fracture patients INTERVENTIONS:: None MAIN OUTCOME MEASURES:: Patient and fracture characteristics, surgical duration, surgical delay intra-operative and post-operative complications, inpatient mortality and length of stay...
March 8, 2017: Journal of Orthopaedic Trauma
https://www.readbyqxmd.com/read/28323631/search-for-unconventional-superconductors-among-the-y-i-te-i-sub-2-sub-si-sub-2-sub-compounds-i-te-i-cr-co-ni-rh-pd-pt
#8
Adam P Pikul, Malgorzata Samsel-Czekala, Grzegorz Chajewski, Tetiana Romanova, Alicja Hackemer, Roman Gorzelniak, Piotr Wiśniewski, Dariusz Kaczorowski
Motivated by the recent discovery of exotic superconductivity in YFe<sub>2</sub>Ge<sub>2</sub> we undertook reinvestigation of formation and physical properties of yttrium-based 1:2:2 silicides. Here we report on syntheses and crystal structures of the Y<i>TE</i><sub>2</sub>Si<sub>2</sub> compounds with <i>TE</i> = Cr, Co, Ni, Rh, Pd, and Pt, and their low-temperature physical properties measurements, supplemented by results of fully relativistic FPLO band structure calculations...
March 21, 2017: Journal of Physics. Condensed Matter: An Institute of Physics Journal
https://www.readbyqxmd.com/read/28323553/examining-pediatric-care-for-newly-immigrated-families-perspectives-of-health-care-providers
#9
David Nicholas, Bonnie Fleming-Carroll, Michele Durrant, Jonathan Hellmann
Respect for the ethnicity and cultural background of families are important components of health care delivery. However, the needs of new immigrants in pediatric care systems remain under-addressed in the literature. This study utilized a qualitative approach of interpretive description to elicit the pediatric health care experiences and needs of new immigrants to Canada, from the perspective of health care providers who worked extensively with newcomers. Two focus groups of multidisciplinary health care providers were conducted in a tertiary-level pediatric hospital...
March 21, 2017: Social Work in Health Care
https://www.readbyqxmd.com/read/28323549/feasibility-of-an-electronic-participant-information-system-for-adult-day-services-a-qualitative-study-of-staff-perspectives
#10
Yujun Liu, Christina Voskanova Tyhurst, Shannon E Jarrott
Adult day services (ADS) professionals have begun to explore assessment systems focused on participants. Barriers include inadequate technology, software costs, and personnel requirements. We present data from staff interviews at an ADS with an electronic participant information system. Contrary to reports about difficulties learning to use electronic systems, staff found the system manageable and data meaningful. We identify ways that community-based centers can build partnerships and utilize software to integrate assessment and electronic records to improve center performance and participant outcomes...
February 7, 2017: Home Health Care Services Quarterly
https://www.readbyqxmd.com/read/28320158/addressing-post-stroke-care-in-rural-areas-with-peru-as-a-case-study-placing-emphasis-on-evidence-based-pragmatism
#11
REVIEW
J Jaime Miranda, Miguel G Moscoso, Lijing L Yan, Francisco Diez-Canseco, Germán Málaga, Hector H Garcia, Bruce Ovbiagele
Stroke is a major cause of death and disability, with most of its burden now affecting low- and middle-income countries (LMIC). People in rural areas of LMIC who have a stroke receive very little acute stroke care and local healthcare workers and family caregivers in these regions lack the necessary knowledge to assist them. Intriguingly, a recent rapid growth in cell-phone use and digital technology in rural areas has not yet been appropriately exploited for health care training and delivery purposes. What should be done in rural areas, at the community setting-level, where access to healthcare is limited remains a challenge...
April 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28320130/spg2-mimicking-multiple-sclerosis-in-a-family-identified-using-next-generation-sequencing
#12
Anna Rubegni, Carla Battisti, Alessandra Tessa, Alfonso Cerase, Stefano Doccini, Alessandro Malandrini, Filippo M Santorelli, Antonio Federico
Several single gene disorders can potentially be overlooked in the differential diagnostic evaluation of patients with multiple sclerosis (MS). Pelizaeus-Merzbacher disease and spastic paraplegia type 2 are allelic X-linked disorders associated with defective myelination of the central nervous system and mutations in PLP1. Neurological symptoms are occasionally observed in female carriers of these mutations. Two women - the proposita (Pt1) and her mother (Pt2) - reported walking difficulties since adolescence and showed progressive cognitive decline...
April 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28319979/patient-experience-a-critical-indicator-of-healthcare-performance
#13
Pamela H Guler
Patient experience has become a critical differentiator for healthcare organizations, and it will only grow in importance as transparency and consumerism dominate the healthcare landscape. Creating and sustaining a consistently exceptional experience that promotes patient engagement and the best outcomes is far more than just "satisfying" patients, going well beyond amenities that may be provided.Perception of care experience is often shaped by methods we use to address the biopsychosocial needs of patients...
April 2017: Frontiers of Health Services Management
https://www.readbyqxmd.com/read/28319801/first-trimester-prediction-of-gestational-diabetes-mellitus-a-clinical-model-based-on-maternal-demographic-parameters
#14
Arianne N Sweeting, Heidi Appelblom, Glynis P Ross, Jencia Wong, Heikki Kouru, Paul F Williams, Mikko Sairanen, Jon A Hyett
AIM: Develop a first trimester risk prediction model for GDM based on maternal clinical characteristics in a large metropolitan multi-ethnic population and compare its performance to that of other recently published GDM prediction models and clinical risk scoring systems. METHODS: A retrospective case control study of 248 women who developed GDM and 732 controls who did not. Maternal clinical parameters were prospectively obtained at 11-13(+6) weeks' gestation. A predictive multivariate regression model for GDM was developed, evaluated using areas under the receiver-operating characteristic (AUC) curve...
March 7, 2017: Diabetes Research and Clinical Practice
https://www.readbyqxmd.com/read/28319438/systemic-deregulation-of-autophagy-upon-loss-of-als-and-ftd-linked-c9orf72
#15
Yon Ji, Janet Ugolino, Nathan Ryan Brady, Anne Hamacher-Brady, Jiou Wang
A genetic mutation in the C9orf72 gene causes the most common forms of neurodegenerative diseases amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The C9orf72 protein, predicted to be a DENN-family protein, is reduced in ALS and FTD, but its functions remain poorly understood. Using a 3110043O21Rik/C9orf72 knockout mouse model, as well as cellular analysis, we have found that loss of C9orf72 causes alterations in the signaling states of central autophagy regulators. In particular, C9orf72 depletion leads to reduced activity of MTOR, a negative regulator of macroautophagy/autophagy, and concomitantly increased TFEB levels and nuclear translocation...
March 20, 2017: Autophagy
https://www.readbyqxmd.com/read/28318500/mutations-in-tmem260-cause-a-pediatric-neurodevelopmental-cardiac-and-renal-syndrome
#16
Asaf Ta-Shma, Tahir N Khan, Asaf Vivante, Jason R Willer, Pavle Matak, Chaim Jalas, Ben Pode-Shakked, Yishay Salem, Yair Anikster, Friedhelm Hildebrandt, Nicholas Katsanis, Orly Elpeleg, Erica E Davis
Despite the accelerated discovery of genes associated with syndromic traits, the majority of families affected by such conditions remain undiagnosed. Here, we employed whole-exome sequencing in two unrelated consanguineous kindreds with central nervous system (CNS), cardiac, renal, and digit abnormalities. We identified homozygous truncating mutations in TMEM260, a locus predicted to encode numerous splice isoforms. Systematic expression analyses across tissues and developmental stages validated two such isoforms, which differ in the utilization of an internal exon...
March 11, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28318416/conflicts-between-motivational-systems-related-to-attachment-trauma-key-to-understanding-the-intra-family-relationship-between-abused-children-and-their-abusers
#17
Giovanni Liotti
Research on disorganization of infant attachment provides evidence that it can be caused not only by violent aggression or very early sexual abuse, but also by covert maltreating behavior, which includes the abdication of the caregiver's responsibility to soothe the infant's distress. This paper argues that both overtly abusive caregivers and merely "abdicating" caregivers may cause disorganization of infant attachment through a simultaneous and conflicting activation of the motivational systems governing attachment and survival defense in the infant...
March 1, 2017: Journal of Trauma & Dissociation
https://www.readbyqxmd.com/read/28318352/the-role-of-nlrp3-casp1-in-inflammasome-mediated-neuroinflammation-and-autophagy-dysfunction-in-manganese-induced-hippocampal-dependent-impairment-of-learning-and-memory-ability
#18
Diya Wang, Jianbin Zhang, Wenkai Jiang, Zipeng Cao, Fang Zhao, Tongjian Cai, Michael Aschner, Wenjing Luo
Central nervous system (CNS) inflammation and autophagy dysfunction are known to be involved in the pathology of neurodegenerative diseases. Manganese (Mn), a neurotoxic metal, has the potential to induce microglia-mediated neuroinflammation as well as autophagy dysfunction. NLRP3 (NLR family, pyrin domain containing 3)- CASP1 (caspase 1) inflammasome-mediated neuroinflammation in microglia has specific relevance to neurological diseases. However, the mechanism driving these phenomena remains poorly understood...
February 27, 2017: Autophagy
https://www.readbyqxmd.com/read/28318269/quartic-dispersion-strong-singularity-magnetic-instability-and-unique-thermoelectric-properties-in-two-dimensional-hexagonal-lattices-of-group-va-elements
#19
Haldun Sevincli
The critical points and the corresponding singularities in the density of states of crystals were first classified by Van Hove with respect to their dimensionality and energy-momentum dispersions. Here, different from saddle-point Van Hove singularities, the occurrence of a continuum of critical points, which give rise to strong singularities in two-dimensional elemental hexagonal lattices, is shown using a minimal tight-binding formalism. The model predicts quartic energy-momentum dispersions in spite of quadratic or linear ones, which is also the origin of the strong singularity...
March 20, 2017: Nano Letters
https://www.readbyqxmd.com/read/28317184/self-assembled-multivalent-samul-polyanion-binding-impact-of-hydrophobic-modifications-in-the-micellar-core-on-dna-and-heparin-binding-at-the-peripheral-cationic-ligands
#20
Buthaina Albanyan, Erik Laurini, Paola Posocco, Sabrina Pricl, David K Smith
This paper reports a small family of cationic surfactants designed to bind polyanions such as DNA and heparin. Each molecule has the same hydrophilic cationic ligand, and a hydrophobic aliphatic group with eighteen carbon atoms with either one, two or three alkene groups within the hydrophobic chain (C18-1, C18-2 and C18-3). Dynamic light scattering indicates that more alkenes lead to geometric distortion, giving rise to larger self-assembled multivalent (SAMul) nanostructures. Mallard Blue and Ethidium Bromide dye displacement assays demonstrate that heparin and DNA have markedly different binding preferences, with heparin binding most effectively to C18-1, and DNA to C18-3, even though the molecular structural differences of these SAMul systems are buried in the hydrophobic core...
March 20, 2017: Chemistry: a European Journal
keyword
keyword
26319
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"