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https://www.readbyqxmd.com/read/29884852/haematopoietic-stem-cell-transplant-for-hyper-igm-syndrome-due-to-cd40-defects-a-single-centre-experience
#1
B Al-Saud, M Al-Jomaie, A Al-Ghonaium, A Al-Ahmari, H Al-Mousa, S Al-Muhsen, A Al-Seraihy, R Arnaout, S Elshorbagi, H Al-Dhekri, M Ayas
Hyper-IgM syndrome due to CD40 deficiency (HIGM3) is a rare disease with only a few reported cases of haematopoietic stem cell transplantation (HSCT). In retrospective study, we reviewed all patients with HIGM3 who underwent HSCT at King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia, between 2008 and 2013. Six patients were identified. Three male and three female patients from three families. The median age of diagnosis was 13 months (range, 1-28 months). All lacked CD40 expression on B cells by flow cytometry...
June 8, 2018: Bone Marrow Transplantation
https://www.readbyqxmd.com/read/29867829/unique-features-and-anti-microbial-targeting-of-folate-and-flavin-dependent-methyltransferases-required-for-accurate-maintenance-of-genetic-information
#2
REVIEW
Hannu Myllykallio, Pierre Sournia, Alice Heliou, Ursula Liebl
Comparative genome analyses have led to the discovery and characterization of novel flavin- and folate-dependent methyltransferases that mainly function in DNA precursor synthesis and post-transcriptional RNA modification by forming (ribo) thymidylate and its derivatives. Here we discuss the recent literature on the novel mechanistic features of these enzymes sometimes referred to as "uracil methyltransferases," albeit we prefer to refer to them as (ribo) thymidylate synthases. These enzyme families attest to the convergent evolution of nucleic acid methylation...
2018: Frontiers in Microbiology
https://www.readbyqxmd.com/read/29724177/effectiveness-of-informational-decision-aids-and-a-live-donor-financial-assistance-program-on-pursuit-of-live-kidney-transplants-in-african-american-hemodialysis-patients
#3
L Ebony Boulware, Patti L Ephraim, Jessica Ameling, LaPricia Lewis-Boyer, Hamid Rabb, Raquel C Greer, Deidra C Crews, Bernard G Jaar, Priscilla Auguste, Tanjala S Purnell, Julio A Lamprea-Monteleagre, Tope Olufade, Luis Gimenez, Courtney Cook, Tiffany Campbell, Ashley Woodall, Hema Ramamurthi, Cleomontina A Davenport, Kingshuk Roy Choudhury, Matthew R Weir, Donna S Hanes, Nae-Yuh Wang, Helene Vilme, Neil R Powe
BACKGROUND: African Americans have persistently poor access to living donor kidney transplants (LDKT). We conducted a small randomized trial to provide preliminary evidence of the effect of informational decision support and donor financial assistance interventions on African American hemodialysis patients' pursuit of LDKT. METHODS: Study participants were randomly assigned to receive (1) Usual Care; (2) the Providing Resources to Enhance African American Patients' Readiness to Make Decisions about Kidney Disease (PREPARED); or (3) PREPARED plus a living kidney donor financial assistance program...
May 3, 2018: BMC Nephrology
https://www.readbyqxmd.com/read/29707853/blood-utilisation-in-a-developing-society-what-is-the-best-index-of-efficiency
#4
K S Charles, L De Freitas, R Ramoutar, R Goolam, S Juman, D Murray, R Jhingai, A Chantry
OBJECTIVES: To assess blood usage for elective surgery in a developing country as a first step towards developing a maximum surgical blood-ordering schedule (MSBOS). BACKGROUND: Cross-match:transfusion (C/T) ratio, transfusion index (Ti ) and transfusion ratio (T%) are standard indices of efficient blood usage for elective surgical procedures. The MSBOS assigns surgical procedures to Group and Cross Match (GXM) and Group and Save (G&S) categories. Non-use probability (NUP) is the percentage of blood that is requested but not used...
April 30, 2018: Transfusion Medicine
https://www.readbyqxmd.com/read/29675172/functional-role-of-an-unusual-tyrosine-residue-in-the-electron-transfer-chain-of-a-prokaryotic-6-4-photolyase
#5
Daniel Holub, Hongju Ma, Norbert Krauß, Tilman Lamparter, Marcus Elstner, Natacha Gillet
Cryptochromes and photolyases form a flavoprotein family in which the FAD chromophore undergoes light induced changes of its redox state. During this process, termed photoreduction, electrons flow from the surface via conserved amino acid residues to FAD. The bacterial (6-4) photolyase PhrB belongs to a phylogenetically ancient group. Photoreduction of PhrB differs from the typical pattern because the amino acid of the electron cascade next to FAD is a tyrosine (Tyr391), whereas photolyases and cryptochromes of other groups have a tryptophan as direct electron donor of FAD...
February 7, 2018: Chemical Science
https://www.readbyqxmd.com/read/29660548/how-to-deal-with-the-empty-space-after-organ-removal-for-transplantation-a-single-medical-center-experience
#6
Ding-Ping Sun, Ling-Hsien Lee, Yu-Feng Tian, Hong-Xiang Zheng, Jinn-Rung Kuo, Che-Chuan Wang
OBJECTIVE: Dealing with the empty space after organ removal for transplantation has not been investigated. METHODS: From January 28, 2005, to November 21, 2017, 111 organ donors were enrolled in this study. They were divided into 3 groups: no replacement, replaced with paper printed with organ graphics, or replaced with 3-dimensional (3D) printed simulated organs. The organs were removed at different periods. The donor's age, gender, etiology of admission, characteristics, clinical pictures, time interval between admission and date of donation, and time interval between donor coordinator consultations were evaluated...
April 14, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29652917/prevalent-hepatitis-b-surface-antigen-among-first-time-blood-donors-in-gabon
#7
Jean Marie Eko Mba, Cyrille Bisseye, Jophrette Mireille Ntsame Ndong, Landry Erik Mombo, Calixte Bengone, Guy Mouelet Migolet, Bertrand M'batchi, Heidi E Kosiorek, Richard J Butterfield, Lewis R Roberts, Mitesh J Borad, Bolni Marius Nagalo
Despite chronic Hepatitis B virus (HBV) infection being the main cause of younger-onset complex liver disease including cirrhosis and hepatocellular carcinoma (HCC) in Africa, very little is known regarding the seroprevalence of HBV in the Gabonese general population. This investigation aimed to provide strong epidemiological data and risk factors associated with HBV infection in first-time blood donors representative of the urban adult population. The screening of HBsAg was carried out using 4th generation ELISA kits...
2018: PloS One
https://www.readbyqxmd.com/read/29496731/selective-maternal-seeding-and-environment-shape-the-human-gut-microbiome
#8
Katri Korpela, Paul Costea, Luis Pedro Coelho, Stefanie Kandels-Lewis, Gonneke Willemsen, Dorret I Boomsma, Nicola Segata, Peer Bork
Vertical transmission of bacteria from mother to infant at birth is postulated to initiate a life-long host-microbe symbiosis, playing an important role in early infant development. However, only the tracking of strictly defined unique microbial strains can clarify where the intestinal bacteria come from, how long the initial colonizers persist, and whether colonization by other strains from the environment can replace existing ones. Using rare single nucleotide variants in fecal metagenomes of infants and their family members, we show strong evidence of selective and persistent transmission of maternal strain populations to the vaginally born infant and their occasional replacement by strains from the environment, including those from family members, in later childhood...
April 2018: Genome Research
https://www.readbyqxmd.com/read/29343286/diagnosis-and-management-of-transthyretin-familial-amyloid-polyneuropathy-in-japan-red-flag-symptom-clusters-and-treatment-algorithm
#9
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
#10
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)...
March 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
#11
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
#12
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...
January 2018: Der Orthopäde
https://www.readbyqxmd.com/read/29209135/first-case-of-cross-auxiliary-double-domino-donor-liver-transplantation
#13
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
#14
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
#15
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
#16
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...
March 2018: Medical Humanities
https://www.readbyqxmd.com/read/28959424/recent-developments-in-the-use-of-aza-heck-cyclizations-for-the-synthesis-of-chiral-n-heterocycles
#17
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
#18
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
#19
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
#20
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...
June 2017: Transfusion and Apheresis Science
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