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https://www.readbyqxmd.com/read/27915031/acid-ceramidase-deficiency-is-characterized-by-a-unique-plasma-cytokine-and-ceramide-profile-that-is-altered-by-therapy
#1
Shaalee Dworski, Ping Lu, Aneal Khan, Bruno Maranda, John J Mitchell, Rossella Parini, Maja Di Rocco, Boris Hugle, Makoto Yoshimitsu, Bo Magnusson, Balahan Makay, Nur Arslan, Norberto Guelbert, Karoline Ehlert, Andrea Jarisch, Janet Gardner-Medwin, Rawane Dagher, Maria Teresa Terreri, Charles Marques Lorenco, Lilianna Barillas-Arias, Pranoot Tanpaiboon, Alexander Solyom, James S Norris, Xingxuan He, Edward H Schuchman, Thierry Levade, Jeffrey A Medin
Acid Ceramidase Deficiency (Farber Disease, FD) is an ultra-rare Lysosomal Storage Disorder that is poorly understood and often misdiagnosed as Juvenile Idiopathic Arthritis (JIA). Hallmarks of FD are accumulation of ceramides, widespread macrophage infiltration, splenomegaly, and lymphocytosis. The cytokines involved in this abnormal hematopoietic state are unknown. There are dozens of ceramide species and derivatives, but the specific ones that accumulate in FD have not been investigated. We used a multiplex assay to analyze cytokines and mass spectrometry to analyze ceramides in plasma from patients and mice with FD, controls, Farber patients treated by hematopoietic stem cell transplantation (HSCT), JIA patients, and patients with Gaucher disease...
November 30, 2016: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/27913473/first-line-therapy-for-young-patients-with-cll
#2
Nitin Jain, Susan O'Brien
A 61-year-old man with a history of chronic lymphocytic leukemia (CLL) presents with complaints of worsening fatigue and night sweats. He was diagnosed with CLL 3 years ago on routine blood count testing. He has no major medical comorbidities. On examination, he has several 2- to 3-cm lymph nodes in the cervical and axillary area. Spleen is palpable 5 cm below the costal margin. Blood counts show lymphocytosis with thrombocytopenia and anemia. Prognostic markers include deletion 13q by fluorescence in situ hybridization analysis and mutated IGHV You are asked by the hematology fellow you are supervising about the best treatment of this patient...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27905908/the-balance-between-the-serum-levels-of-il-6-and-il-10-cytokines-discriminates-mild-and-severe-acute-pneumonia
#3
Rita de Cássia Coelho Moraes de Brito, Norma Lucena-Silva, Leuridan Cavalcante Torres, Carlos Feitosa Luna, Jaílson de Barros Correia, Giselia Alves Pontes da Silva
BACKGROUND: To identify markers for earlier diagnosis of severe pneumonia, we assess the correlation between serum cytokine profile of children with different pneumonia severity. METHODS: In 25 hospitalized children, 7 with mild pneumonia and 18 with severe pneumonia, the serum concentration of 11 cytokines in three sampling times were dosed. Statistical analysis included parametric and non-parametric tests, Pearson correlation and ROC curve for cut-off definition of cytokines...
December 1, 2016: BMC Pulmonary Medicine
https://www.readbyqxmd.com/read/27872727/identifying-high-risk-chronic-lymphocytic-leukemia-a-pathogenesis-oriented-appraisal-of-prognostic-and-predictive-factors-in-patients-treated-with-chemotherapy-with-or-without-immunotherapy
#4
REVIEW
Sara Martinelli, Antonio Cuneo, Luca Formigaro, Maurizio Cavallari, Enrico Lista, Francesca Maria Quaglia, Maria Ciccone, Antonella Bardi, Eleonora Volta, Elisa Tammiso, Elena Saccenti, Olga Sofritti, Giulia Daghia, Massimo Negrini, Melissa Dabusti, Paolo Tomasi, Sabrina Moretti, Francesco Cavazzini, Gian Matteo Rigolin
Chronic lymphocytic leukemia (CLL) displays an extremely variable clinical behaviour. Accurate prognostication and prediction of response to treatment are important in an era of effective first-line regimens and novel molecules for high risk patients. Because a plethora of prognostic biomarkers were identified, but few of them were validated by multivariable analysis in comprehensive prospective studies, we applied in this survey stringent criteria to select papers from the literature in order to identify the most reproducible prognostic/predictive markers...
2016: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/27862277/omenn-syndrome-presenting-with-striking-erythroderma-and-extreme-lymphocytosis-in-a-newborn
#5
Rabia Zafar, Aaron Ver Heul, Avraham Beigelman, Jeffrey J Bednarski, Susan J Bayliss, Louis P Dehner, Ilana S Rosman, Carrie C Coughlin
Omenn syndrome is an autosomal recessive form of "leaky" severe combined immune deficiency resulting in distinct phenotypic features. The patient described herein had an atypical presentation of Omenn syndrome, with conspicuous erythroderma and extreme lymphocytosis at birth, in contrast to the typical evolution of rash seen during the first few weeks of life. In addition, the skin findings were secondary to infiltration of CD8(+) (cytotoxic) T-cells in contrast to the CD4(+) (helper) T-cells typically seen, which broadens the Omenn syndrome phenotype...
November 12, 2016: Pediatric Dermatology
https://www.readbyqxmd.com/read/27854102/the-next-generation-of-targeted-molecules-for-the-treatment-of-chronic-lymphocytic-leukemia
#6
REVIEW
Deepa Jeyakumar, Susan O'Brien
With the recent approval of several new targeted therapies for chronic lymphocytic leukemia (CLL), there are now multiple options for its treatment. Inhibitors of Bruton tyrosine kinase (with ibrutinib being the first-in-class US Food and Drug Administration-approved agent) and phosphoinositide 3-kinase (with idelalisib as the first-in-class approved agent) are promising because they are generally well tolerated and highly effective against this malignancy. These agents may be particularly important in the treatment of older patients who are less able to tolerate the myelosuppression (and subsequent infections) associated with chemoimmunotherapy...
November 15, 2016: Oncology (Williston Park, NY)
https://www.readbyqxmd.com/read/27847520/a-complicated-course-of-acute-viral-induced-pharyngitis-icteric-hepatitis-acalculous-cholecystitis-and-skin-rash
#7
Fereshte Sheybani, HamidReza Naderi, Seddigheh Sadat Erfani, Masoumeh Gharib
This case reveals the complexities and challenges in the diagnosis of acute Epstein-Barr virus (EBV) infection, indicating the potential relationship between EBV infection and severe icteric hepatitis, acalculous cholecystitis, and lymphocytic vasculitis. We suggest including EBV infectious mononucleosis in the list of differential diagnoses when any of these clinical syndromes (or a combination thereof) occurs without apparent cause, especially in the presence of lymphocytosis. To our knowledge, this is the first report to suggest the possible role of EBV in the pathogenesis of cutaneous lymphocytic vasculitis...
2016: Case Reports in Medicine
https://www.readbyqxmd.com/read/27846610/bone-marrow-findings-in-autoimmune-lymphoproliferative-syndrome-with-germline-fas-mutation
#8
Yi Xie, Stefania Pittaluga, Susan Price, Mark Raffeld, Jamie Hahn, Elaine S Jaffe, V Koneti Rao, Irina Maric
Autoimmune lymphoproliferative syndrome is rare genetic disorder characterized by defective FAS-mediated apoptosis, autoimmune disease, accumulation of mature T-cell receptor alpha/beta positive, CD4 and CD8 double-negative T cells and increased risk for lymphoma. Despite frequent hematological abnormalities, literature is scarce regarding the bone marrow pathology in autoimmune lymphoproliferative syndrome. We retrospectively reviewed 3l bone marrow biopsies from a cohort of 240 patients with germline FAS mutation...
October 20, 2016: Haematologica
https://www.readbyqxmd.com/read/27831590/systemic-acremonium-species-infection-in-a-dog
#9
Bianca D Ballhausen, Kathrin Geisweid, Katrin Hartmann, Johannes Hirschberger, Monir Majzoub, Bianka Schulz
A 2-year-old female Magyar Viszla was referred with fever, lethargy, polyuria/polydipsia, and suspected systemic cryptococcosis. At presentation increased rectal temperature and enlarged lymph nodes were detected. Main laboratory abnormalities included lymphocytosis, eosinophilia, and mildly reduced urine specific gravity. Abdominal ultrasound was unremarkable. Lymph node cytology revealed mycotic infection. Acremonium species was isolated from urine as well as from a popliteal lymph node by fungal culture...
November 10, 2016: Tierärztliche Praxis. Ausgabe K, Kleintiere/Heimtiere
https://www.readbyqxmd.com/read/27812893/microarray-analysis-of-differential-gene-expression-profiles-in-blood-cells-of-naturally-blv-infected-and-uninfected-holstein-friesian-cows
#10
P Brym, S Kamiński
The aim of the present study was to examine gene expression changes in response to bovine leukemia virus (BLV) infection, in an effort to determine genes that take a part in molecular events leading to persistent lymphocytosis (PL), and to better define genes involved in host response to BLV infection. Using bovine 70-mer oligonucleotide spotted microarrays (BLOPlus) and qRT-PCR validation, we studied global gene expression profiles in blood cells in vivo of 12 naturally BLV-infected Polish Holstein cows, and 12 BLV non-infected controls of the same breed and reared in herds with high BLV seroprevalence...
November 3, 2016: Molecular Biology Reports
https://www.readbyqxmd.com/read/27810335/establishing-a-dose-response-relationship-between-acute-resistance-exercise-and-the-immune-system-protocol-for-a-systematic-review
#11
REVIEW
Adam Michael Szlezak, Siri Lauluten Szlezak, James Keane, Lotti Tajouri, Clare Minahan
Exercise immunology research has traditionally focussed on aerobic-exercise, however it has become apparent in more recent years that resistance-exercise can also considerably affect host immunobiology. To date however, no systematic process has been used to establish a dose-response relationship between resistance-exercise and the immune system. The present systematic review was thus conducted to determine the dose-response effects of a bout of resistance-exercise on acute leukocyte counts. In accordance with the PRISMA guidelines, a systematic literature search was conducted in the electronic databases, PubMed, Web of Science, and Google Scholar, over the date range of 1989-2016...
November 1, 2016: Immunology Letters
https://www.readbyqxmd.com/read/27803820/seronegative-intestinal-villous-atrophy-a-diagnostic-challenge
#12
Cláudio Martins, Cristina Teixeira, Suzane Ribeiro, Daniel Trabulo, Cláudia Cardoso, João Mangualde, Ricardo Freire, Ana Luísa Alves, Élia Gamito, Isabelle Cremers, Ana Paula Oliveira
Celiac disease is the most important cause of intestinal villous atrophy. Seronegative intestinal villous atrophy, including those that are nonresponsive to a gluten-free diet, is a diagnostic challenge. In these cases, before establishing the diagnosis of seronegative celiac disease, alternative etiologies of atrophic enteropathy should be considered. Recently, a new clinical entity responsible for seronegative villous atrophy was described-olmesartan-induced sprue-like enteropathy. Herein, we report two uncommon cases of atrophic enteropathy in patients with arterial hypertension under olmesartan, who presented with severe chronic diarrhea and significant involuntary weight loss...
2016: Case Reports in Gastrointestinal Medicine
https://www.readbyqxmd.com/read/27803750/alterations-of-pulmonary-function-in-patients-with-inflammatory-bowel-diseases
#13
Xiao-Qing Ji, Yan-Bo Ji, Shan-Xin Wang, Cai-Qing Zhang, De-Gan Lu
AIM: The aim of this study was to investigate the alterations of pulmonary function tests (PFTs) and their relationship with disease activity in inflammatory bowel diseases (IBDs). METHODS: Sixty-four IBD patients (31 Crohn's disease [CD] and 33 ulcerative colitis [UC]) and thirty healthy individuals (controls) were studied with regard to the following parameters of PFTs: Forced expiratory volume in 1 s (FEV1), forced vital capacity (FVC), their ratio, mid-forced expiratory flow of 25-75% (FEF 25-75), residual volume, total lung capacity, and diffusing capacity of the lung for carbon monoxide (DLCO)...
October 2016: Annals of Thoracic Medicine
https://www.readbyqxmd.com/read/27789281/prolonged-lymphocytosis-as-the-first-manifestation-of-hodgkin-like-adult-t-cell-leukemia-lymphoma
#14
Achiléa L Bittencourt, Agnes Carvalho Andrade, Cristiane Requião, Maria da Gloria Bomfim Arruda, Iguaracyra Araújo
Hodgkin-like ATLL is a rare variant of adult T-cell leukemia/lymphoma (ATLL), a disease caused by human T-cell lymphotropic virus type-1 (HTLV-1). At admission, a 46-year-old female presented with lymphadenomegaly, lymphocytosis, slight elevation of LDH blood level, and acid-alcohol resistant bacilli in sputum and was being treated for pulmonary tuberculosis (Tb). She had lymphocytosis in the previous 20 months. Serology for HTLV-1 was positive. Lymph node was infiltrated by medium-sized lymphocytes with scattered Hodgkin and Reed-Sternberg-like cells CD30+, CS1-4+, and CD79a+...
October 24, 2016: Brazilian Journal of Infectious Diseases
https://www.readbyqxmd.com/read/27774886/the-clinico-hematological-features-and-management-outcome-in-neonatal-malaria-a-nine-years-analysis-from-north-india
#15
Kriti Mohan
BACKGROUND: Malaria is an important cause of death and illness in children worldwide. Most cases of neonatal malaria are misdiagnosed because of the lack of specific symptoms and a general lack of awareness. Nothing much is known in literature about the haematological changes during malaria infection and outcome of disease in neonates. Neonatal malaria is an underdiagnosed entity. So this hospital based observational study aims to assess diagnostic features of neonatal malaria. METHODS: From August 2004 to August 2013, information of all slide positive for malaria cases aged 0 to 28 days admitted to our pediatric hospital was collected and analysed...
October 20, 2016: Infectious Disorders Drug Targets
https://www.readbyqxmd.com/read/27759688/an-index-case-of-concomitant-tumoral-and-ichthyosiform-mycosis-fungoides-like-presentation-of-chronic-adult-t-cell-leukemia-lymphoma-associated-with-upregulation-of-tox
#16
Giang Huong Nguyen, James Y Wang, Kenneth B Hymes, Cynthia M Magro
Adult T-cell leukemia/lymphoma (ATLL) is a rare and often aggressive lymphoid malignancy known to be associated with human T-cell lymphotropic virus type 1. There are 2 broad categories: acute and chronic. In the acute category, there is a leukemic and a lymphomatous variant, whereas in the designated "chronic" form, there is mild peripheral blood lymphocytosis. The intermediate "smoldering" category is without peripheral blood lymphocytosis with only discernible skin involvement. We present a 68-year-old human T-cell lymphotropic virus type 1 seropositive female with a mild peripheral blood atypical lymphocytosis who had indurated nodules on her hands of 2 years duration and a new scaly ichthyosiform eruption on her lower extremities...
October 12, 2016: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/27758813/tuberculous-meningitis-in-an-immunocompetent-male-complicated-by-hydrocephalus
#17
Louise Dunphy, Prashanth Shetty, Rabinder Randhawa, Kharil Amir Rani, Yaw Duodu
A 39-year-old man, born in India but resident in the UK for 10 years, was travelling in America when he became feverish with an altered mentation. He reported a 10-day history of fever, photophobia, headache and fatigue. His medical history included hypothyroidism and migraine. He was a non-smoker, did not consume alcohol and denied a history of drug use. He was transferred to the emergency department. Laboratory investigations confirmed hyponatraemia (sodium 128 mmol/L). A chest radiograph confirmed no focal consolidation...
October 7, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27755009/distinguishing-between-hepatosplenic-t-cell-lymphoma-and-%C3%AE-%C3%AE-t-cell-large-granular-lymphocytic-leukemia-a-clinicopathologic-immunophenotypic-and-molecular-analysis
#18
Mariko Yabe, L Jeffrey Medeiros, Sa A Wang, Guilin Tang, Carlos E Bueso-Ramos, Jeffrey L Jorgensen, Govind Bhagat, Weina Chen, Shaoying Li, Ken H Young, Roberto N Miranda
Hepatosplenic T-cell lymphoma (HSTCL) is a rare, aggressive T-cell lymphoma that can be challenging to diagnose. In particular, distinguishing HSTCL from T-cell large granular lymphocytic (T-LGL) leukemia of γδ T-cell receptor (TCR) type is difficult without examination of a splenectomy specimen. In this study, we systematically assessed a series of HSTCL cases for findings reported in the literature as supporting or not supporting the diagnosis of HSTCL. We also compared HSTCL with a group of cases of T-LGL of γδ TCR type...
October 13, 2016: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/27742069/b-cell-receptor-inhibition-as-a-target-for-cll-therapy
#19
Deepa Jeyakumar, Susan O'Brien
Inhibitors of the B cell receptor (BCR) represent an attractive therapeutic option for patients with chronic lymphocytic leukemia. Recently approved inhibitors of Bruton's tyrosine kinase (ibrutinib) and phosphatidylinositol 3-kinase (idelalisib), are promising agents because they are generally well tolerated and highly effective. These agents may be particularly important in the treatment of older patients who are less able to tolerate the myelosuppression (and infections) associated with chemoimmunotherapy...
March 2016: Best Practice & Research. Clinical Haematology
https://www.readbyqxmd.com/read/27734522/detection-of-l265p-myd-88-mutation-in-a-series-of-clonal-b-cell-lymphocytosis-of-marginal-zone-origin-cbl-mz
#20
Christina Kalpadakis, Gerassimos A Pangalis, Theodoros P Vassilakopoulos, Maria Roumelioti, Sotirios Sachanas, Penelope Korkolopoulou, Efstathios Koulieris, Maria Moschogiannis, Xanthi Yiakoumis, Pantelis Tsirkinidis, Charalampos Pontikoglou, Dimitra Rondoyianni, Helen A Papadaki, Panayiotidis Panayiotidis, Maria K Angelopoulou
Clonal B-cell lymphocytosis of marginal zone origin (CBL-MZ) is a recently described entity characterized by the presence of clonal B cells in the blood and/or bone marrow (BM) with morphologic and immunophenotypic features consistent with marginal zone derivation in otherwise healthy individuals. CBL-MZ is commonly associated with paraproteinemia, usually immunoglobulin M (IgM), raising diagnostic difficulties from Waldenstrom macroglobulinemia (WM). The aim of the present study was to determine the presence of MYD-88 L265P mutation in a well-characterized series of CBL-MZ to identify cases that may in fact represent WM...
October 13, 2016: Hematological Oncology
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