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https://www.readbyqxmd.com/read/29343286/diagnosis-and-management-of-transthyretin-familial-amyloid-polyneuropathy-in-japan-red-flag-symptom-clusters-and-treatment-algorithm
#1
REVIEW
Yoshiki Sekijima, Mitsuharu Ueda, Haruki Koike, Sonoko Misawa, Tomonori Ishii, Yukio Ando
Hereditary ATTR (ATTRm) amyloidosis (also called transthyretin-type familial amyloid polyneuropathy [ATTR-FAP]) is an autosomal-dominant, adult-onset, rare systemic disorder predominantly characterized by irreversible, progressive, and persistent peripheral nerve damage. TTR gene mutations (e.g. replacement of valine with methionine at position 30 [Val30Met (p.Val50Met)]) lead to destabilization and dissociation of TTR tetramers into variant TTR monomers, which form amyloid fibrils that deposit in peripheral nerves and various organs, giving rise to peripheral and autonomic neuropathy and several non-disease specific symptoms...
January 17, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29305766/a-novel-lips-assay-for-insulin-autoantibodies
#2
Daniela Liberati, Rebecca C Wyatt, Cristina Brigatti, Ilaria Marzinotto, Maurizio Ferrari, Elena Bazzigaluppi, Emanuele Bosi, Ben T Gillard, Kathleen M Gillespie, Frans Gorus, Ilse Weets, Eric Balti, Lorenzo Piemonti, Peter Achenbach, Alistair J K Williams, Vito Lampasona
AIMS: Insulin autoantibodies (IAA) are often the first marker of autoimmunity detected in children in the preclinical phase of type 1 diabetes (T1D). Currently, the vast majority of laboratories adopt the radiobinding micro-assay (RBA) for measuring IAA. Our aim was to replace RBA with a novel non-radioactive IAA Luciferase Immuno Precipitation System (LIPS) assay with improved performance. METHODS: We developed (pro)insulin antigens with alternative placements of a NanoLuc™ luciferase reporter (NLuc)...
January 5, 2018: Acta Diabetologica
https://www.readbyqxmd.com/read/29284697/jordan-s-2002-to-2012-fertility-stall-and-parallel-usaid-investments-in-family-planning-lessons-from-an-assessment-to-guide-future-programming
#3
Esther Spindler, Nisreen Bitar, Julie Solo, Elizabeth Menstell, Dominick Shattuck
Health practitioners, researchers, and donors are stumped about Jordan's stalled fertility rate, which has stagnated between 3.7 and 3.5 children per woman from 2002 to 2012, above the national replacement level of 2.1. This stall paralleled United States Agency for International Development (USAID) funding investments in family planning in Jordan, triggering an assessment of USAID family planning programming in Jordan. This article describes the methods, results, and implications of the programmatic assessment...
December 28, 2017: Global Health, Science and Practice
https://www.readbyqxmd.com/read/29242964/-bone-substitute-materials-as-local-drug-carriers-current-status-of-substitutes-of-various-origins
#4
REVIEW
K-D Kühn, C Berberich, H Bösebeck
BACKGROUND: Autologous bone grafts (autografts) are used in surgery for defect filling and impaction grafting during hip socket and femur reconstruction. Because of their superior osteoinductive capacity, autografts are considered the "gold standard" for these treatments. However, because of a better cost-benefit ratio, allografts are also often used. In the case of limited donor availability for autologous or allogenic bone grafts, bone substitute materials (BSMs) are a reasonable alternative or supplement...
December 14, 2017: Der Orthopäde
https://www.readbyqxmd.com/read/29209135/first-case-of-cross-auxiliary-double-domino-donor-liver-transplantation
#5
Zhi-Jun Zhu, Lin Wei, Wei Qu, Li-Ying Sun, Ying Liu, Zhi-Gui Zeng, Liang Zhang, En-Hui He, Hai-Ming Zhang, Ji-Dong Jia, Zhong-Tao Zhang
We report a case of double domino liver transplantation in a 32-year-old woman who was diagnosed with familial amyloid polyneuropathy (FAP) and liver dysfunction. A two-stage surgical plan was designed, and one domino graft was implanted during each stage. During the first stage, an auxiliary domino liver transplantation was conducted using a domino graft from a 4-year-old female child with Wilson's disease. After removing the right lobe of the FAP patient's liver, the graft was rotated 90 degrees counterclockwise and placed along the right side of the inferior vena cava (IVC)...
November 28, 2017: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/29163365/functional-mitochondria-in-health-and-disease
#6
REVIEW
Patries M Herst, Matthew R Rowe, Georgia M Carson, Michael V Berridge
The ability to rapidly adapt cellular bioenergetic capabilities to meet rapidly changing environmental conditions is mandatory for normal cellular function and for cancer progression. Any loss of this adaptive response has the potential to compromise cellular function and render the cell more susceptible to external stressors such as oxidative stress, radiation, chemotherapeutic drugs, and hypoxia. Mitochondria play a vital role in bioenergetic and biosynthetic pathways and can rapidly adjust to meet the metabolic needs of the cell...
2017: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/29142981/commercial-kidney-transplantation-attitude-knowledge-perception-and-experience-of-recipients
#7
Fatma Al Rahbi, Issa Al Salmi
Introduction: Kidney transplantation is the gold standard for patients with end-stage kidney disease. In view of shortages of available organs, long wait times for possible transplantation, and strict regulation, many patients opt for commercial transplantation. This study elicits the reasons and motivations for patients with end-stage kidney disease to elect for commercial transplant. Methods: A questionnaire-based evaluation was conducted during the period from July 2015 until late December 2015...
July 2017: KI Reports
https://www.readbyqxmd.com/read/28972037/messy-entanglements-research-assemblages-in-heart-transplantation-discourses-and-practices
#8
Margrit Shildrick, Andrew Carnie, Alexa Wright, Patricia McKeever, Emily Huan-Ching Jan, Enza De Luca, Ingrid Bachmann, Susan Abbey, Dana Dal Bo, Jennifer Poole, Tammer El-Sheikh, Heather Ross
The paper engages with a variety of data around a supposedly single biomedical event, that of heart transplantation. In conventional discourse, organ transplantation constitutes an unproblematised form of spare part surgery in which failing biological components are replaced by more efficient and enduring ones, but once that simple picture is complicated by employing a radically interdisciplinary approach, any biomedical certainty is profoundly disrupted. Our aim, as a cross-sectorial partnership, has been to explore the complexities of heart transplantation by explicitly entangling research from the arts, biosciences and humanities without privileging any one discourse...
September 28, 2017: Medical Humanities
https://www.readbyqxmd.com/read/28959424/recent-developments-in-the-use-of-aza-heck-cyclizations-for-the-synthesis-of-chiral-n-heterocycles
#9
Nicholas J Race, Ian R Hazelden, Adele Faulkner, John F Bower
Aza-Heck cyclizations are an emerging method for the construction of chiral N-heterocyclic systems. In these processes, an activated N-O bond replaces the C-X bond (X = halide, OTf) used in conventional Heck reactions, with the associated aza-Pd(ii)-intermediate engaging pendant alkenes in a Heck-like manner. This perspective article commences with an historical overview of the area, which stems from Narasaka's seminal studies using oxime esters as the initiating motif. The scope and mechanism of associated chiral N-heterocyclic methodologies are then outlined, including cascade processes that enable diverse alkene 1,2-carboaminations...
August 1, 2017: Chemical Science
https://www.readbyqxmd.com/read/28709842/what-compatibility-in-2017-for-the-haematopoietic-stem-cell-transplantation
#10
X Lafarge
The diversification of potential donors to perform stem cell allografts now enables to propose a compatible graft cell source adapted to the different clinical situations. Transplants with a geno-identical sibling donor, otherwise with the most HLA-compatible unrelated donor, remain the first-line solutions. Alternative transplants allow to graft patients having no donors in international registries, owing to the rarity of their HLA typing. They are carried out with fairly incompatible grafts and are therefore limited by the existence in the recipient of preformed anti-HLA antibodies which predispose to their rejection...
July 11, 2017: Transfusion Clinique et Biologique: Journal de la Société Française de Transfusion Sanguine
https://www.readbyqxmd.com/read/28649514/early-hematopoietic-stem-cell-transplantation-in-a-patient-with-severe-mucopolysaccharidosis-ii-a-7%C3%A2-years-follow-up
#11
Anneliese L Barth, Tatiana S P C de Magalhães, Ana Beatriz R Reis, Maria Lucia de Oliveira, Fernanda B Scalco, Nicolette C Cavalcanti, Daniel S E Silva, Danielle A Torres, Alessandra A P Costa, Carmem Bonfim, Roberto Giugliani, Juan C Llerena, Dafne D G Horovitz
Mucopolysaccharidosis type II (MPS II - Hunter syndrome) is an X-linked lysosomal storage disorder caused by a deficiency in the enzyme iduronate-2 sulfatase (I2S), leading to the accumulation of the glycosaminoglycans, affecting multiple organs and systems. Enzyme replacement therapy does not cross the blood brain barrier, limiting results in neurological forms of the disease. Another option of treatment for severe MPS, hematopoietic stem cell transplantation (HSCT) has become the treatment of choice for the severe form of MPS type I, since it can preserve neurocognition when performed early in the course of the disease...
September 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28550979/status-of-blood-transfusion-in-world-health-organization-eastern-mediterranean-region-who-emr-successes-and-challenges
#12
REVIEW
Arezoo Darbandi, Pargol Mashati, Amir Yami, Arshia Gharehbaghian, Mehdi Tabrizi Namini, Ahmad Gharehbaghian
BACKGROUND: Blood products are used for patient treatment and survival in the cases of major surgery, hematological disorders or cancer therapy. Presently the main blood components are not yet replaceable by artificial products and all activities related to blood transfusion is highly dependent on the healthcare development of each country. The World Health Organization Eastern Mediterranean Region (WHO-EMR) comprises of 21 member states with variable socio-economic status effective on blood transfusion activities...
May 8, 2017: Transfusion and Apheresis Science
https://www.readbyqxmd.com/read/28547759/blood-donors-attitudes-towards-voluntary-non-remunerated-donation-in-trinidad-and-tobago
#13
K S Charles, A Poon King, A Ramai, K Rajnath, D Ramkissoon, S Ramkissoon, C Ramlal, K Ramnarine, K Rampersad, G Legall, S Pooransingh, A D Chantry
OBJECTIVES: To assess the attitude towards voluntary non-remunerated blood donation among blood donors in Trinidad and Tobago (TRT). BACKGROUND: Blood donors in TRT are either family replacement (F/R, 87%) or remunerated (13%). There is chronic blood shortage and high seroreactivity for transfusion-transmissible infections (TTI) in donors. Converting existing to voluntary non-remunerated donors (VNRD) reduces the need to recruit news donors in achieving 100% VNRD...
May 26, 2017: Transfusion Medicine
https://www.readbyqxmd.com/read/28347494/using-family-members-as-gamete-donors-or-gestational-carriers
#14
(no author information available yet)
The use of adult intrafamilial gamete donors and gestational surrogates is generally ethically acceptable when all participants are fully informed and counseled, but consanguineous arrangements or ones that simulate incestuous unions should be prohibited. Adult child-to-parent arrangements require caution in order to avoid coercion, and parent-to-adult child arrangements are acceptable in limited situations. Programs that choose to participate in intrafamilial arrangements should be prepared to spend additional time counseling participants and ensuring that they have made free, informed decisions...
May 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28346229/clinical-efficacy-of-gene-modified-stem-cells-in-adenosine-deaminase-deficient-immunodeficiency
#15
Kit L Shaw, Elizabeth Garabedian, Suparna Mishra, Provaboti Barman, Alejandra Davila, Denise Carbonaro, Sally Shupien, Christopher Silvin, Sabine Geiger, Barbara Nowicki, E Monika Smogorzewska, Berkley Brown, Xiaoyan Wang, Satiro de Oliveira, Yeong Choi, Alan Ikeda, Dayna Terrazas, Pei-Yu Fu, Allen Yu, Beatriz Campo Fernandez, Aaron R Cooper, Barbara Engel, Greg Podsakoff, Arumugam Balamurugan, Stacie Anderson, Linda Muul, G Jayashree Jagadeesh, Neena Kapoor, John Tse, Theodore B Moore, Ken Purdy, Radha Rishi, Kathey Mohan, Suzanne Skoda-Smith, David Buchbinder, Roshini S Abraham, Andrew Scharenberg, Otto O Yang, Kenneth Cornetta, David Gjertson, Michael Hershfield, Rob Sokolic, Fabio Candotti, Donald B Kohn
BACKGROUND: Autologous hematopoietic stem cell transplantation (HSCT) of gene-modified cells is an alternative to enzyme replacement therapy (ERT) and allogeneic HSCT that has shown clinical benefit for adenosine deaminase-deficient (ADA-deficient) SCID when combined with reduced intensity conditioning (RIC) and ERT cessation. Clinical safety and therapeutic efficacy were evaluated in a phase II study. METHODS: Ten subjects with confirmed ADA-deficient SCID and no available matched sibling or family donor were enrolled between 2009 and 2012 and received transplantation with autologous hematopoietic CD34+ cells that were modified with the human ADA cDNA (MND-ADA) γ-retroviral vector after conditioning with busulfan (90 mg/m2) and ERT cessation...
May 1, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28209722/long-term-outcome-of-hematopoietic-stem-cell-transplantation-for-il2rg-jak3-scid-a-cohort-report
#16
Intan Juliana Abd Hamid, Mary A Slatter, Fiona McKendrick, Mark S Pearce, Andrew R Gennery
Hematopoietic stem cell transplantation (HSCT) cures the T-lymphocyte, B-lymphocyte, and natural killer (NK)-cell differentiation defect in interleukin-2 γ-chain receptor (IL2RG)/JAK3 severe combined immunodeficiency (SCID). We evaluated long-term clinical features, longitudinal immunoreconstitution, donor chimerism, and quality of life (QoL) of IL2RG/JAK3 SCID patients >2 years post-HSCT at our center. Clinical data were collated and patients/families answered PedsQL Generic Core Scale v4.0 questionnaires...
April 13, 2017: Blood
https://www.readbyqxmd.com/read/28194615/how-we-manage-adenosine-deaminase-deficient-severe-combined-immune-deficiency-ada-scid
#17
Donald B Kohn, H Bobby Gaspar
Adenosine deaminase-deficient severe combined immune deficiency (ADA SCID) accounts for 10-15% of cases of human SCID. From what was once a uniformly fatal disease, the prognosis for infants with ADA SCID has improved greatly based on the development of multiple therapeutic options, coupled with more frequent early diagnosis due to implementation of newborn screening for SCID. We review the various treatment approaches for ADA SCID including allogeneic hematopoietic stem cell transplantation (HSCT) from a human leukocyte antigen-matched sibling or family member or from a matched unrelated donor or a haplo-identical donor, autologous HSCT with gene correction of the hematopoietic stem cells (gene therapy-GT), and enzyme replacement therapy (ERT) with polyethylene glycol-conjugated adenosine deaminase...
May 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28168869/blood-transfusion-in-the-caribbean-a-case-study-of-trinidad-and-tobago
#18
REVIEW
K S Charles
The Caribbean islands form an archipelago connecting North and South America. They have all been colonised by European countries and share strong historical, social, economic and diplomatic links with North America. However, their blood transfusion services have evolved differently, using predominantly family/replacement rather than voluntary non-remunerated donors as has been the practice in England and America since 1926 and 1970, respectively. This article uses the case of Trinidad and Tobago to examine the history and current state of blood transfusion services in the Caribbean and to present early results of an initiative for improving blood safety and adequacy in the region...
February 2017: Transfusion Medicine
https://www.readbyqxmd.com/read/28123965/should-kiribati-continue-to-aim-for-100-voluntary-non-remunerated-blood-donation-as-recommended-by-the-who
#19
G Tauma, A D Harries, O E A Merilles, R Tekoaua, B Teriboriki
Setting: Tungaru Central Hospital Blood Bank Laboratory, Nawerewere, Tarawa, Kiribati. Objective: To determine characteristics, deferrals and reasons for deferral amongst blood donors from 2011 to 2016. Design: A cross-sectional study using routinely collected data. Results: From January 2011 to March 2016, 8531 potential blood donors were registered. For each full year, the proportion of voluntary non-remunerated blood donors (VNRBD) was below 10%, although it increased to 13% in 2015. The overall proportion of blood donors deferred increased each year over the 5-year period, from 44% to 57%, with similar increases in deferrals in VNRBD and family replacement donors (FRD)...
December 21, 2016: Public Health Action
https://www.readbyqxmd.com/read/28003943/envisioning-and-leading-organizational-transformation-one-organ-procurement-organization-s-journey
#20
Jeffrey P Orlowski
BACKGROUND:  In 2012, one organ procurement organization (OPO) welcomed a new President and Chief Executive Officer (CEO). This OPO, LifeShare Transplant Donor Services of Oklahoma (LifeShare), had just celebrated its 25th anniversary in 2011. While LifeShare was well-established chronologically, growth in organ donors and organs transplanted from these donors had occurred at a much slower rate during the collaborative era and afterward (2003-2011) than the donor/transplant growth the United States (US), as a whole, had experienced...
November 15, 2016: Curēus
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