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Current Research in Translational Medicine

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https://read.qxmd.com/read/30723056/identification-of-a-novel-homozygous-frameshift-mutation-in-slc29a3-gene-in-a-case-with-h-syndrome-from-iran
#1
Rita Bagherian, Farideh Yousefipour, Houriyeh Sadat Mousavi, Fatemeh Saffari, Elham HajiShafieha, Samin Nesbat Mohammadi, Hadi Mousakhani, Seyed Mohammad Fathi, Amirhossein Mehrtash, Fatemeh Masomi Verki, Donghyun Lee, Abolfazl Heidari
H syndrome is a rare monogenic autosomal recessive disease with characteristic cutaneous findings and multisystem involvement. The aim of this study is to present an Iranian patient with H syndrome and to describe a novel frameshift mutation in SLC29A3 gene. The patient was diagnosed with a few small areas of hyperpigmentation and accompanying hypertrichosis in the lumbar area of her back. Her clinical phenotypes included short stature, hepatosplenomegaly, facial widespread bilateral telangiectatic lesions, bilateral hypertrophy of the parotid gland, upper extremity flexion contracture, elevated inflammatory markers (ESR, CRP) and diabetes mellitus...
February 2, 2019: Current Research in Translational Medicine
https://read.qxmd.com/read/30686650/rhino-orbital-mucormycosis-presenting-as-facial-cellulitis-in-a-patient-with-high-risk-acute-myeloid-leukemia-in-relapse
#2
LETTER
Pierre-Edouard Debureaux, Olivier Paccoud, Juliette Guitard, Bertrand Baujat, Annalisa Ruggeri, Giorgia Battipaglia, Rémy Duléry, Federica Giannotti, Florent Malard, Mohamad Mohty, Eolia Brissot
No abstract text is available yet for this article.
January 24, 2019: Current Research in Translational Medicine
https://read.qxmd.com/read/30685380/update-of-inflammatory-proliferative-retinopathy-ischemia-hypoxia-and-angiogenesis
#3
REVIEW
A Aouiss, D Anka Idrissi, M Kabine, Y Zaid
Diabetic retinopathy (DR) and retinopathy of prematurity (ROP) present two examples of proliferative retinopathy, characterized by the same stages of progression; ischemia of the retinal vessels, leads to hypoxia and to correct the problem there is the setting up of uncontrolled angiogenesis, which subsequently causes blindness or even detachment of the retina. The difference is the following; that DR initiated by the metabolic complications that are due to hyperglycemia, and ROP is induced by overexposure of the neonatal retina to oxygen...
January 23, 2019: Current Research in Translational Medicine
https://read.qxmd.com/read/30685379/altered-fecal-bacterial-composition-correlates-with-disease-activity-in-inflammatory-bowel-disease-and-the-extent-of-il8-induction
#4
Farnaz Heidarian, Masoud Alebouyeh, Shabnam Shahrokh, Hedieh Balaii, Mohammad Reza Zali
PURPOSE OF THE STUDY: In this study we investigated the presence and relative abundance of important genera of the gut microbiota in IBD patients and their role in induction of IL8 in a cell culture model. PATIENTS AND METHODS: Stool samples of IBD patients and healthy controls were collected and relative diversity of thirteen bacterial families was measured using quantitative real-time PCR assay. Moreover, filtrate of the stool samples was used for treatment of HT-29 cell line to analyze involvement of diversity of the fecal bacterial communities in the extent of IL8 induction...
January 23, 2019: Current Research in Translational Medicine
https://read.qxmd.com/read/30683577/hla-dp-mismatch-and-cmv-reactivation-increase-risk-of-agvhd-independently-in-recipients-of-allogeneic-stem-cell-transplant
#5
Armin Ghobadi, Denái R Milton, Lohith Gowda, Gabriela Rondon, Roy F Chemaly, Amir Hamdi, Amin Alousi, Aimaz Afrough, Betul Oran, Stefan Ciurea, Partow Kebriaei, Uday R Popat, Muzaffar H Qazilbash, Elizabeth J Shpall, Richard E Champlin, Qaiser Bashir
HLA-DP mismatched allogeneic hematopoietic stem cell transplantation (allo-HCT) is associated with increased risk of aGVHD and decreased risk of relapse with no effects on overall survival (OS). It has been proposed that CMV-reactivation induces expression of HLA-DP molecules on GVHD target tissues by releasing inflammatory cytokines. We hypothesized that the increased GVHD incidence in HLA-DP mismatched allo-SCTs correlates with recipient CMV serostatus or CMV reactivation. In addition, CMV reactivation is associated with increased risk of GVHD with an unknown mechanism...
January 22, 2019: Current Research in Translational Medicine
https://read.qxmd.com/read/30665880/immunomagnetic-selective-donor-derived-cd4-ccr7-t-cell-depletion-procedure-for-peripheral-blood-stem-cells-graft
#6
P Varlet, S Rogeau, J Trauet, J Demaret, M Labalette
PURPOSE OF THE STUDY: While acute graft-versus-host-disease (GVHD) is a T cell-mediated disease caused by alloreactive donor T cells, we and others have highlighted that patients who received higher proportion of donor CD4+ naïve and central memory T cells expressing the chemokine receptor 7 (CCR7) more often developed acute GVHD than those who did not. Consequently, we then investigated in vitro the impact of selective CD4+ CCR7+ T cell depletion on immune reactions and showed that such a depletion reduced alloreactivity without altering acquired anti-infectious reactions...
January 19, 2019: Current Research in Translational Medicine
https://read.qxmd.com/read/30591375/biological-function-of-dipeptidyl-peptidase-4-on-type-2-diabetes-patients-and-diabetic-mice
#7
Jing Qiao, Lei Li, Yanchun Ma, Ruhui Shi, Mei Teng
BACKGROUND: Type 2 diabetes (TD2) is a sustained metabolic disorder, characterized by high blood glucose, insulin resistance (IR). Dipeptidyl peptidase-4 (DPP4) functions as an antigenic enzyme involved in hyperglycaemia, oxidative stress, and inflammation-associated IR. Therefore, association between DPP4 and TD2 warrants to be investigated. METHODS: In this study, blood samples of clinically diagnosed TD2 patients were harvested for biochemical tests. In addition, diabetic mice induced by high-fat diet (HFD) and single dose of streptozotocin (STZ) were used to assess the biological characteristics of DPP4 through biochemical and enzyme-linked immunosorbent assay (ELISA) tests, immunofluorescence staining, and western blot assay...
December 24, 2018: Current Research in Translational Medicine
https://read.qxmd.com/read/30591374/cd34-selected-stem-cell-boost-for-poor-graft-function-after-allogeneic-hematopoietic-stem-cell-transplantation
#8
LETTER
R Mohty, E Brissot, G Battipaglia, A Ruggeri, S Sestili, C Mediavilla, R Belhocine, R Dulery, M Mohty, F Malard
No abstract text is available yet for this article.
December 24, 2018: Current Research in Translational Medicine
https://read.qxmd.com/read/30583985/sarcopenic-obesity-derived-from-pet-ct-predicts-mortality-in-lymphoma-patients-undergoing-hematopoietic-stem-cell-transplantation
#9
J Jabbour, B Manana, A Zahreddine, C Saade, M Charafeddine, A Bazarbachi, D Blaise, J El-Cheikh
BACKGROUND: Sarcopenic Obesity (SO) is associated with worse survival among chemotherapy recipients. Research on SO is scarce among lymphoma patients receiving Hematopoietic Stem Cell Transplantation (HSCT). AIM: assess prevalence of SO pre-HSCT (T0) and 3 months post-HSCT (T1) in lymphoma patients and determine the power of SO at T0 and T1 in predicting survival. METHODS: Consecutive patients (age ≥16 years) having B and T cell lymphoma who underwent SCT and who had PET/CT scan pre-SCT and 3 months post SCT were included in the study...
December 21, 2018: Current Research in Translational Medicine
https://read.qxmd.com/read/30503816/portal-hypertension-the-desperate-search-for-the-placenta
#10
Maria Angeles Aller, Natalia Arias, Javier Blanco-Rivero, Gloria Balfagón, Jaime Arias
We propose that the circulatory impairments produced, in both portal hypertension and liver cirrhosis, to a certain degree resemble those characterizing prenatal life in the fetus. In fact, the left-right circulatory syndrome is common in cirrhotic patients and in the fetus. Thus, in patients with portal hypertension and chronic liver failure, the re-expression of a blood circulation comparable to fetal circulation is associated with the development of similar amniotic functions, i.e., ascites production and placenta functions, and portal vascular enteropathy...
November 29, 2018: Current Research in Translational Medicine
https://read.qxmd.com/read/30448276/hla-genotype-and-response-to-nivolumab-therapy-in-relapsed-refractory-primary-mediastinal-b-cell-lymphoma
#11
LETTER
Rehab Yassin, Ali Hajeer, Saeed Alshieban, Ghulam Syed, Bader Alahmari, Ayman Alhejazi, Ahmed Alaskar, Mohsen Alzahrani, Moussab Damlaj
No abstract text is available yet for this article.
November 14, 2018: Current Research in Translational Medicine
https://read.qxmd.com/read/30274738/burden-of-cytomegalovirus-disease-in-allogeneic-hematopoietic-cell-transplant-recipients-a-national-matched-cohort-study-in-an-inpatient-setting
#12
Z Hakimi, S Ferchichi, S Aballea, I Odeyemi, M Toumi, M English, I Yakoub-Agha
PURPOSE OF THE STUDY: No studies have compared the risk of mortality or graft-versus-host disease, in an inpatient setting in France, in allogeneic hematopoietic cell transplant recipients who develop cytomegalovirus disease with those who do not. This study assessed the impact of cytomegalovirus disease on clinical outcomes and healthcare resource utilization in allogeneic hematopoietic cell transplant recipients using the French Programme de Médicalisation des Systèmes d'Information database...
November 2018: Current Research in Translational Medicine
https://read.qxmd.com/read/30217555/diagnostic-accuracy-of-interleukin-22-and-adenosine-deaminase-for-tuberculous-pleural-effusions
#13
Junyun He, Rui Zhang, Yongchun Shen, Chun Wan, Ni Zeng, Jiangyue Qin, Panwen Tian, Lei Chen
OBJECTIVE: Reliable markers for accurately diagnosing tuberculous pleural effusions (TPE) are needed. This study sought to investigate the diagnostic potential of pleural interleukin-22 (IL-22) and compare it with the performance of adenosine deaminase (ADA). METHOD: This prospective study involved 49 patients with TPE and 60 patients with pleural effusion of other causes. Pleural levels of IL-22 and ADA were determined, respectively, using ELISA or an enzymatic method...
November 2018: Current Research in Translational Medicine
https://read.qxmd.com/read/30097215/clonal-evolution-of-myelofibrosis-treated-with-hematopoietic-transplantation-using-ruxolitinib-for-chronic-gvhd-a-case-report
#14
L Fouillet, E Daguenet, F Schein, E Tavernier, P Flandrin-Gresta, J Cornillon
Deciphering the mutational patterns and/or the biomarkers that might predict clinical response in patients with myelofibrosis is primordial to make treatment decisions. In this report, we discuss the clinical history, pathological evaluation, and genomics findings in a patient with JAK2-positive myelofibrosis who developed a secondary myelodysplasia after hematopoietic stem cell transplantation and JAK1/2 inhibitor treatment. Using next-generation sequencing, a paired comparison of relapse-specific versus primary tumour mutations highlighted the dynamic clonal evolution at relapse, showing concurrently the complete eradication of the JAK2-positive clone and the expansion of a second JAK2-negative clone with additional mutations...
November 2018: Current Research in Translational Medicine
https://read.qxmd.com/read/29519713/sinusoidal-obstruction-syndrome-veno-occlusive-disease-complication-in-lymphoma-patients-treated-with-oxaliplatin-based-regimen-a-case-series-report
#15
E Bernichon, E Daguenet, C Molla, J Cornillon, C Lejeune, F Casteillo, D Guyotat, E Tavernier
AIM: SOS/VOD is a relevant clinical syndrome that usually appears early after hematopoietic stem cell transplantation. The purpose of this article was to report a case series of SOS/VOD in non-susceptible patients and draw physicians' attention to the plausible relationship between liver injury and oxaliplatin-based chemotherapy, preceding autologous transplantation. METHODS: In this study, we report a case series of SOS/VOD in 4 lymphoma patients following autologous transplantation...
November 2018: Current Research in Translational Medicine
https://read.qxmd.com/read/30206046/site-specific-diagnostic-yield-of-endoscopic-biopsies-in-gastrointestinal-graft-versus-host-disease-a-tertiary-care-center-experience
#16
Fady Daniel, Lara Hassoun, Mohammad Husni, Alaa Sharara, Assad Soweid, Kassem Barada, Basel Haffar, Radwan Massoud, Yasser Shaib, Jana Al-Hashash, Ali Bazarbachi, Jean El Cheikh
BACKGROUND: Gastrointestinal (GI) graft versus host disease (GVHD) occurs in up to 40% of patients undergoing allogenic hematopoietic stem cell transplantation (HSCT). However, the optimal endoscopic approach is still unclear and the area of the GI tract with the highest diagnostic yield is still a topic of debate. OBJECTIVE: We compared the diagnostic yield of different anatomic site biopsies in the diagnosis of GI GVHD and assessed the correlation of endoscopic findings with histopathology...
September 8, 2018: Current Research in Translational Medicine
https://read.qxmd.com/read/30206045/scoring-system-based-on-post-transplant-complications-in-patients-after-allogeneic-hematopoietic-cell-transplantation-for-myelodysplastic-syndrome-a-study-from-the-sfgm-tc
#17
Alexis Caulier, Elodie Drumez, Jordan Gauthier, Marie Robin, Didier Blaise, Yves Beguin, Mauricette Michallet, Patrice Chevallier, Jacques-Olivier Bay, Stéphane Vigouroux, Yohan Desbrosses, Jérôme Cornillon, Stéphanie Nguyen, Charles Dauriac, Régis Peffault de Latour, Bruno Lioure, Pierre-Simon Rohrlich, Martin Carré, Jean-Henri Bourhis, Anne Huynh, Felipe Suarez, Federico Garnier, Alain Duhamel, Ibrahim Yakoub-Agha
PURPOSE: We developed a prognostic scoring system to evaluate the prognosis of myelodysplastic syndrome (MDS) patients surviving more than 100 days allogeneic hematopoietic cell transplantation after (allo-HCT). PATIENTS AND METHODS: We performed a landmark analysis on a derivation cohort of 393 cases to identify prognostic factors for 3-year overall survival. Potential predictor variables included demographic and clinical data, transplantation modalities and early post-transplant complications...
September 8, 2018: Current Research in Translational Medicine
https://read.qxmd.com/read/30191811/acute-polyradiculopathy-secondary-to-idelalisib-in-relapsed-classical-hodgkin-s-lymphoma
#18
S Barbieux, E M Boyle, C Baillet, H Demarquette, P Vermersch, F Morschhauser, C Herbaux
Patients with relapsed or refractory Hodgkin's lymphoma are likely incurable with standard treatment. Idelalisib, a delta-isoform specific Phosphatidyl-inositol-3-kinase (PI3K) inhibitor has shown its efficacy in other hematopoietic B malignancies. We report the case of a 51-years old patient with relapsed and refractory Hodgkin's Lymphoma receiving idelalisib after several regimens of chemotherapy. He achieved a good partial response for several months, unfortunately, idelalisib had to be stopped because of the onset of a severe polyradiculoneuritis attributed to this treatment...
September 2018: Current Research in Translational Medicine
https://read.qxmd.com/read/30108026/schnitzler-syndrome-co-occurring-with-idiopathic-multicentric-castleman-disease-that-responds-to-anti-il-1-therapy-a-case-report-and-clue-to-pathophysiology
#19
Simon Soudet, David Fajgenbaum, Claire Delattre, Alexandra Forestier, Eric Hachulla, Pierre Yves Hatron, David Launay, Louis Terriou
Patients with HHV-8-negative/idiopathic multicentric Castleman disease (iMCD) experience systemic inflammatory symptoms and polyclonal lymphoproliferation due to an unknown etiology. Schnitzler's syndrome (SS) is characterized by recurrent urticarial rash, monoclonal IgM gammopathy, and other clinical signs of inflammation. To our knowledge, we report the first case of iMCD associated with SS and the fourth case of anakinra inducing a complete response for an iMCD patient. A forty-four year old woman with a history of a recurrent urticarial rash, presented to our hospital complaining of 6 months of night sweats, fever, chronic urticaria, iliac bone pain, and generalized lymphadenopathy...
September 2018: Current Research in Translational Medicine
https://read.qxmd.com/read/30108025/association-between-type-i-interferon-and-depletion-and-dysfunction-of-endothelial-progenitor-cells-in-c57bl-6-mice-deficient-in-both-apolipoprotein-e-and-fas-ligand
#20
Linyu Geng, Shiying Wang, Xia Li, Dandan Wang, Haifeng Chen, Jinyun Chen, Yue Sun, Weiwei Chen, Genhong Yao, Xiang Gao, Wanjun Chen, Songtao Shi, Xuebing Feng, Lingyun Sun
Patients with systemic lupus erythematosus (SLE) have a tremendously increased risk for cardiovascular disease (CVD), which could not be accounted in entirety by traditional Framingham risk factors. To study whether the accelerated atherosclerosis in SLE patients is mediated by type I interferon (IFN-I) through the regulation of endothelial progenitor cells (EPCs), we created a line of C57BL/6 mice with deficiency in both apolipoprotein E (ApoE-/-) and fas ligand (FasL-/-, gld.). As expected, the resultant gld...
September 2018: Current Research in Translational Medicine
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