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combined severe immunodeficiency

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https://www.readbyqxmd.com/read/28333304/further-insights-into-the-impact-of-mouse-follicle-stage-on-graft-outcome-in-an-artificial-ovary-environment
#1
M C Chiti, M M Dolmans, C M Lucci, F Paulini, J Donnez, C A Amorim
STUDY QUESTION: Are mouse preantral follicles differently affected by isolation, encapsulation and/or grafting procedures according to stage? SUMMARY ANSWER: Isolated secondary follicles showed superior ability to survive and grow after transplantation, which was not related to a particular effect of the isolation and/or grafting procedure, but rather to their own ability to induce neoangiogenesis. WHAT IS KNOWN ALREADY: Isolated and encapsulated mouse preantral follicles can survive (6-27%) and grow (80-100%) in a fibrin matrix with a low concentration of fibrinogen and thrombin (F12...
March 17, 2017: Molecular Human Reproduction
https://www.readbyqxmd.com/read/28333133/fidelity-of-classwide-resistant-hiv-2-reverse-transcriptase-and-differential-contribution-of-k65r-to-the-accuracy-of-hiv-1-and-hiv-2-reverse-transcriptases
#2
Mar Álvarez, Alba Sebastián-Martín, Guillermo García-Marquina, Luis Menéndez-Arias
Nucleoside reverse transcriptase (RT) inhibitors constitute the backbone of current therapies against human immunodeficiency virus type 1 and type 2 (HIV-1 and HIV-2, respectively). However, mutational pathways leading to the development of nucleoside analogue resistance are different in both types of HIV. In HIV-2, resistance to all approved nucleoside analogues is conferred by the combination of RT substitutions K65R, Q151M and M184V. Nucleotide incorporation kinetic analyses of mutant and wild-type (WT) HIV-2 RTs show that the triple-mutant has decreased catalytic efficiency due to the presence of M184V...
March 23, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28331055/reticular-dysgenesis-international-survey-on-clinical-presentation-transplantation-and-outcome
#3
Manfred Hoenig, Chantal Lagresle-Peyrou, Ulrich Pannicke, Luigi D Notarangelo, Fulvio Porta, Andrew R Gennery, Mary Slatter, Morton J Cowan, Polina Stepensky, Hamoud Al-Mousa, Daifulah Al-Zahrani, Sung-Yun Pai, Waleed Al Herz, Hubert B Gaspar, Paul Veys, Koichi Oshima, Kohsuke Imai, Hiromasa Yabe, Lenora M Noroski, Nico M Wulffraat, Karl-Walter Sykora, Pere Soler-Palacin, Hideki Muramatsu, Mariam Al Hilali, Despina Moshous, Klaus-Michael Debatin, Catharina Schuetz, Eva-Maria Jacobsen, Ansgar S Schulz, Klaus Schwarz, Alain Fischer, Wilhelm Friedrich, Marina Cavazzana
Reticular Dysgenesis (RD) is a rare congenital disorder defined clinically by the combination of severe combined immunodeficiency (SCID), agranulocytosis and sensorineural deafness. Mutations in the gene encoding Adenylate Kinase 2 (AK2) were identified to cause the disorder. Hematopoietic stem cell transplantation (HSCT) is the only option to cure this otherwise fatal disease. Retrospective data on clinical presentation, genetics and outcome of HSCT were collected from centers in Europe, Asia and North America for a total of 32 patients born between 1982 and 2011...
March 22, 2017: Blood
https://www.readbyqxmd.com/read/28325276/limiting-thymic-precursor-supply-increases-the-risk-of-lymphoid-malignancy-in-murine-x-linked-severe-combined-immunodeficiency
#4
Samantha L Ginn, Claus V Hallwirth, Sophia H Y Liao, Erdahl T Teber, Jonathan W Arthur, Jianmin Wu, Hong Ching Lee, Szun S Tay, Min Hu, Roger R Reddel, Matthew P McCormack, Adrian J Thrasher, Marina Cavazzana, Stephen I Alexander, Ian E Alexander
In early gene therapy trials for SCID-X1, using γ-retroviral vectors, T cell leukemias developed in a subset of patients secondary to insertional proto-oncogene activation. In contrast, we have reported development of T cell leukemias in SCID-X1 mice following lentivirus-mediated gene therapy independent of insertional mutagenesis. A distinguishing feature in our study was that only a proportion of transplanted γc-deficient progenitors were transduced and therefore competent for reconstitution. We hypothesized that reconstitution of SCID-X1 mice with limiting numbers of hematopoietic progenitors might be a risk factor for lymphoid malignancy...
March 17, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/28319446/good-laboratory-practice-preclinical-safety-studies-for-gsk2696273-mlv-vector-based-ex-vivo-gene-therapy-for-adenosine-deaminase-deficiency-severe-combined-immunodeficiency-in-nsg-mice
#5
Nicola Carriglio, Jan Klapwijk, Raisa Jofra Hernandez, Michela Vezzoli, Franck Chanut, Rhiannon Lowe, Draghici Elena, Melanie Nord, Paola Albertini, Patrizia Cristofori, Jane Richards, Hazel Staton, Jonathan Appleby, Alessandro Aiuti, Aisha V Sauer
GSK2696273 (autologous CD34+ cells transduced with retroviral vector that encodes for the human adenosine deaminase [ADA] enzyme) is a gamma-retroviral ex vivo gene therapy of bone marrow-derived CD34+ cells for the treatment of adenosine deaminase deficiency severe combined immunodeficiency (ADA-SCID). ADA-SCID is a severe monogenic disease characterized by immunologic and nonimmunologic symptoms. Bone-marrow transplant from a matched related donor is the treatment of choice, but it is available for only a small proportion of patients...
March 2017: Human Gene Therapy. Clinical Development
https://www.readbyqxmd.com/read/28299599/incidence-of-typically-severe-primary-immunodeficiency-diseases-in-consanguineous-and-non-consanguineous-populations
#6
Arnon Broides, Amit Nahum, Amarilla B Mandola, Lihi Rozner, Vered Pinsk, Galina Ling, Baruch Yerushalmi, Jacov Levy, Noga Givon-Lavi
PURPOSE: Primary immunodeficiency diseases are considered to be rare diseases; however, data on the exact birth incidences of these diseases are sparse. Southern Israel is inhabited by two major populations: a relatively non-consanguineous Jewish population and a highly consanguineous Muslim Bedouin population. We sought to calculate the incidences of typically severe primary immunodeficiency diseases and compare the incidences in these populations. METHODS: A retrospective analysis of all typically severe primary immunodeficiency diseases evaluated at a single center from January 1, 1996 to December 31, 2016...
March 16, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28288231/-primary-immunodeficiencies-in-seriously-ill-children-report-of-3-clinical-cases
#7
Leticia Yáñez, Pamela Lama, Carolina Rivacoba, Juanita Zamorano, María Angélica Marinovic
Primary immunodeficiency diseases (PID) are congenital disorders secondary to an impaired immune response. Infections, autoimmune disorders, atopy, and lymphoproliferative syndromes are commonly associated with this disorder. OBJECTIVE: To present and discuss 3 infants diagnosed with PID. CLINICAL CASES: The cases are presented of three patients with PID diagnosed during their first admission to a Paediatric Intensive Critical Care Unit. The first patient, a 4-month-old infant affected by a severe pneumonia, and was diagnosed as a Severe Combined Immunodeficiency Disease...
February 2017: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/28284971/analysis-of-clinical-and-immunologic-phenotype-in-a-large-cohort-of-children-and-adults-with-cartilage-hair-hypoplasia
#8
Svetlana Kostjukovits, Paula Klemetti, Helena Valta, Timi Martelius, Luigi D Notarangelo, Mikko Seppänen, Mervi Taskinen, Outi Mäkitie
In our cohort of individuals with cartilage-hair hypoplasia 1) over 25% of patients manifest clinical combined immunodeficiency and they have lower CD3+, CD8+ and recent thymic emigrant counts; 2) specific antibody deficiency may exist; 3) low IgG2 levels associate with severe varicella.
March 8, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28278569/caring-for-youth-living-with-hiv-across-the-continuum-turning-gaps-into-opportunities
#9
David C Griffith, Allison L Agwu
With the increasing proportion of youth living with human immunodeficiency virus (YLHIV) and the aging of the perinatally infected population, there is a need for clinical services that are "youth friendly" to address the multiple challenges YLHIV face in terms of engagement in care and maintenance of combination antiretroviral therapy (cART). Little is known about how and where YLHIV receive their care. Further, the impact of the care structure on engagement and retention outcomes for YLHIV is ill defined...
February 13, 2017: AIDS Care
https://www.readbyqxmd.com/read/28276080/combining-biomarkers-for-classification-with-covariate-adjustment
#10
Soyoung Kim, Ying Huang
Combining multiple markers can improve classification accuracy compared with using a single marker. In practice, covariates associated with markers or disease outcome can affect the performance of a biomarker or biomarker combination in the population. The covariate-adjusted receiver operating characteristic (ROC) curve has been proposed as a tool to tease out the covariate effect in the evaluation of a single marker; this curve characterizes the classification accuracy solely because of the marker of interest...
March 9, 2017: Statistics in Medicine
https://www.readbyqxmd.com/read/28270365/treatment-of-infants-identified-as-having-severe-combined-immunodeficiency-by-means-of-newborn-screening
#11
Morna J Dorsey, Christopher C Dvorak, Morton J Cowan, Jennifer M Puck
Severe combined immunodeficiency (SCID) is characterized by severely impaired T-cell development and is fatal without treatment. Newborn screening (NBS) for SCID permits identification of affected infants before development of opportunistic infections and other complications. Substantial variation exists between treatment centers with regard to pretransplantation care, and transplantation protocols for NBS identified infants with SCID, as well as infants with other T-lymphopenic disorders detected by using NBS...
March 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28270364/new-frontiers-in-the-therapy-of-primary-immunodeficiency-from-gene-addition-to-gene-editing
#12
REVIEW
Donald B Kohn, Caroline Y Kuo
The most severe primary immune deficiency diseases (PIDs) have been successfully treated with allogeneic hematopoietic stem cell transplantation for more than 4 decades. However, such transplantations have the best outcomes when there is a well-matched donor available because immune complications, such as graft-versus-host disease, are greater without a matched sibling donor. Gene therapy has been developed as a method to perform autologous transplantations of a patient's own stem cells that are genetically corrected...
March 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28268995/low-frequency-ultrasound-radiosensitization-and-therapy-response-monitoring-of-tumors-an-in-vivo-study
#13
Ali Sadeghi-Naini, Martin Stanisz, Hadi Tadayyon, Jaswinder Taank, Gregory J Czarnota
A new framework has been introduced in this paper for tumor radiosensitization and therapy response monitoring using low-frequency ultrasound. Human fibrosarcoma xenografts grown in severe combined immunodeficiency (SCID) mice (n = 108) were treated using ultrasound-stimulated microbubbles at various concentration and exposed to different doses of radiation. Low-frequency ultrasound radiofrequency (RF) data were acquired from tumors prior to and at different times after treatment. Quantitative ultrasound (QUS) techniques were applied to generate spectral parametric maps of tumors...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28266921/clinical-laboratory-and-molecular-findings-of-63-patients-with-severe-combined-immunodeficiency-a-decade%C3%A2-s-experience
#14
M R Fazlollahi, Z Pourpak, A A Hamidieh, M Movahedi, M Houshmand, M Badalzadeh, M Nourizadeh, M Mahloujirad, S Arshi, A M Nabavi, M Gharagozlou, A Khayatzadeh, A Dabbaghzade, L Atarod, F Zandieh, M Sadeghi Shabestary, M Mesdaghi, I Mohammadzadeh, S A Mahdaviani, M H Eslamian, F Pesaran, E Bahraminia, F Abolnezhadian, Z Arij, M Moin
BACKGROUND: Severe combined immunodeficiency (SCID) is known as a pediatric emergency disease with life threatening conditions. This is an exclusive report of clinical evaluation, immunological assessment, molecular analysis and outcomes of SCID patients in a tertiary referral center in Iran. METHODS: During January 2006 and December 2015, in a prospective cohort study, initial screening and advanced immunological tests were carried out on patients suspected of having SCID...
March 7, 2017: Journal of Investigational Allergology & Clinical Immunology
https://www.readbyqxmd.com/read/28259940/dickkopf-related-protein-3-negatively-regulates-the-osteogenic-differentiation-of-rat-dental-follicle-cells
#15
Xinchun Zhang, Yu Du, Junqi Ling, Weiqiang Li, Yan Liao, Xi Wei
The present study aimed to investigate the effect of Dickkopf-related protein 3 (DKK3) on osteogenic differentiation of rat dental follicle cells (DFCs). A PCR array analysis of Wnt pathway activation in DFCs identified genes dysregulated by mineral induction. Among them, DKK3expression levels were decreased, and further experiments were conducted to investigate its role in DFC osteogenesis. By comparing DFCs grown in normal growth and mineral‑induction media for 4 weeks, the present study confirmed that DKK3 was a potential target gene of osteogenesis through reverse transcription-quantitative polymerase chain reaction (RT‑qPCR) and western blotting (WB)...
February 3, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28259888/hiv-associated-kaposi-s-sarcoma
#16
Christian Hoffmann, Michael Sabranski, Stefan Esser
Kaposi's sarcoma (KS) is still one of the most common malignancies in patients with human immunodeficiency virus (HIV) infection. Large randomized clinical trials have shown a protective effect of combination antiretroviral therapy (cART) against the development of KS, even in patients with a relatively preserved immune system. In patients with sufficient cART, KS has become a rarity. In most patients with HIV-associated KS who initiate cART, the KS lesions stabilize with decreasing HIV plasma viremia and immune reconstitution, or even resolve completely without any specific treatment...
2017: Oncology Research and Treatment
https://www.readbyqxmd.com/read/28253324/interferon-alpha-treatment-stimulates-interferon-gamma-expression-in-type-i-nkt-cells-and-enhances-their-antiviral-effect-against-hepatitis-c-virus
#17
Eisuke Miyaki, Nobuhiko Hiraga, Michio Imamura, Takuro Uchida, Hiromi Kan, Masataka Tsuge, Hiromi Abe-Chayama, C Nelson Hayes, Grace Naswa Makokha, Masahiro Serikawa, Hiroshi Aikata, Hidenori Ochi, Yuji Ishida, Chise Tateno, Hideki Ohdan, Kazuaki Chayama
Interferon (IFN) inhibits hepatitis C virus (HCV) replication through up-regulation of intrahepatic IFN-stimulated gene expression but also through activation of host immune cells. In the present study, we analyzed the immune cell-mediated antiviral effects of IFN-α using HCV-infected mice. Urokinase-type plasminogen activator (uPA)-severe combined immunodeficiency (SCID) mice with transplanted human hepatocytes were infected with genotype 1b HCV and injected with human peripheral blood mononuclear cells (PBMCs)...
2017: PloS One
https://www.readbyqxmd.com/read/28250664/potential-of-cannabidiol-for-the-treatment-of-viral-hepatitis
#18
Henry I C Lowe, Ngeh J Toyang, Wayne McLaughlin
Viral hepatitis B (HBV) and hepatitis C (HCV) pose a major health problem globally and if untreated, both viruses lead to severe liver damage resulting in liver cirrhosis and cancer. While HBV has a vaccine, HCV has none at the moment. The risk of drug resistance, combined with the high cost of current therapies, makes it a necessity for cost-effective therapeutics to be discovered and developed. The recent surge in interest in Medical Cannabis has led to interest in evaluating and validating the therapeutic potentials of Cannabis and its metabolites against various diseases including viruses...
January 2017: Pharmacognosy Research
https://www.readbyqxmd.com/read/28245940/risk-stacking-of-pneumococcal-vaccination-indications-increases-mortality-in-unvaccinated-adults-with-streptococcus-pneumoniae-infections
#19
Jacob B Morton, Haley J Morrill, Kerry L LaPlante, Aisling R Caffrey
BACKGROUND: Several chronic disease states have been identified as pneumococcal vaccination indications due to their ability to increase pneumococcal disease development and subsequent mortality. However, the risk of mortality according to the number of these disease states present is unknown. We sought to determine the impact of concomitant, multiple risk factors (stacked risks) for pneumococcal disease on 30-day mortality in adults. METHODS: This was a national case-control study of unvaccinated older Veterans (≥50years of age) admitted to Veterans Affairs medical centers from 2002 to 2011 with serious pneumococcal infections (pneumonia, bacteremia, meningitis) based on positive S...
February 25, 2017: Vaccine
https://www.readbyqxmd.com/read/28245430/man2a1-fer-fusion-gene-is-expressed-by-human-liver-and-other-tumor-types-and-has-oncogenic-activity-in-mice
#20
Zhang-Hui Chen, Yan P Yu, Junyan Tao, Silvia Liu, George Tseng, Michael Nalesnik, Ronald Hamilton, Rohit Bhargava, Joel B Nelson, Arjun Pennathur, Satdarshan P Monga, James D Luketich, George K Michalopoulos, Jian-Hua Luo
BACKGROUND & AIMS: Human tumors and liver cancer cell lines express the product of a fusion between the first 13 exons in the mannosidase α class 2A member 1 gene (MAN2A1) and the last 6 exons in the FER tyrosine kinase gene (FER), called MAN2A1-FER. We investigated whether MAN2A1-FER is expressed by human liver tumors and its role in liver carcinogenesis. METHODS: We performed reverse transcription polymerase chain reaction analyses of 102 non-small cell lung tumors, 61 ovarian tumors, 70 liver tumors, 156 glioblastoma multiform samples, 27 esophageal adenocarcinomas, and 269 prostate cancer samples, as well as 10 nontumor liver tissues and 20 nontumor prostate tissues, collected at the University of Pittsburgh...
February 25, 2017: Gastroenterology
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