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https://www.readbyqxmd.com/read/28229991/a-novel-mutation-in-the-pyrin-domain-of-the-nod-like-receptor-family-pyrin-domain-containing-protein-3-in-muckle-wells-syndrome
#1
Jian Hu, Yun Zhu, Jian-Zhong Zhang, Rong-Guang Zhang, Hou-Min Li
BACKGROUND: Cryopyrin-associated periodic syndrome (CAPS) is a group of rare, heterogeneous autoinflammatory disease characterized by interleukin (IL)-1β-mediated systemic inflammation and clinical symptoms involving skin, joints, central nervous system, and eyes. It encompasses a spectrum of three clinically overlapping autoinflammatory syndromes including familial cold autoinflammatory syndrome, Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disease. CAPS is associated with gain-of-function missense mutations in NOD-like receptor family pyrin domain-containing protein 3 (NLRP3), the gene encoding NLRP3...
2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28229191/-18-f-fdg-pet-ct-imaging-versus-bone-marrow-biopsy-in-pediatric-hodgkin-s-lymphoma-a-quantitative-assessment-of-marrow-uptake-and-novel-insights-into-clinical-implications-of-marrow-involvement
#2
Aamna Hassan, Maimoona Siddique, Humayun Bashir, Saima Riaz, Rabia Wali, Asma Mahreen, M Khalid Nawaz
OBJECTIVE: To evaluate whether positron emission tomography/computed tomography using fluorine-18 fluoro-deoxyglucose ((18)F-FDG PET-CT) predicts bone marrow involvement (BMI) in pediatric Hodgkin's lymphoma (pHL) with sufficient accuracy to supplant routine staging bone marrow biopsy (BMB), and to assess the clinical importance of marrow disease by comparing the prognosis of stage IV HL with BMI versus that without BMI. METHODS: Data were retrospectively analyzed for all cases of pHL between July 2010 and June 2015 referred for staging (18)F-FDG PET-CT scan and BMB...
February 22, 2017: European Journal of Nuclear Medicine and Molecular Imaging
https://www.readbyqxmd.com/read/28228429/two-faces-of-gamma-delta-mycosis-fungoides-before-and-after-renal-transplantation
#3
Knut Erich Prillinger, Franz Trautinger, Melitta Kitzwögerer, Johanna Eder
We describe a patient with a 30-year history of mycosis fungoides (MF) and renal transplantation performed 3 years before he presented with an ulcerated tumour in the lumbosacral area. Biopsy revealed a lymphatic infiltrate of medium-sized, pleomorphic T cells expressing the gamma-delta T-cell receptor. Radiological staging and bone marrow biopsy revealed no extracutaneous involvement. Despite reduction in systemic immunosuppressants, total skin electron beam radiotherapy and systemic chemotherapy, the disease followed a highly aggressive course and the patient died 31 years after initial diagnosis of MF...
February 22, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28218903/macrophage-migration-inhibitory-factor-downregulation-a-novel-mechanism-of-resistance-to-anti-angiogenic-therapy
#4
B A Castro, P Flanigan, A Jahangiri, D Hoffman, W Chen, R Kuang, M De Lay, G Yagnik, J R Wagner, S Mascharak, M Sidorov, S Shrivastav, G Kohanbash, H Okada, M K Aghi
Anti-angiogenic therapies for cancer such as VEGF neutralizing antibody bevacizumab have limited durability. While mechanisms of resistance remain undefined, it is likely that acquired resistance to anti-angiogenic therapy will involve alterations of the tumor microenvironment. We confirmed increased tumor-associated macrophages in bevacizumab-resistant glioblastoma patient specimens and two novel glioblastoma xenograft models of bevacizumab resistance. Microarray analysis suggested downregulated macrophage migration inhibitory factor (MIF) to be the most pertinent mediator of increased macrophages...
February 20, 2017: Oncogene
https://www.readbyqxmd.com/read/28218349/mri-and-18f-fdg-pet-ct-in-a-rare-case-of-early-precursor-b-lymphoblastic-leukaemia-with-bone-involvement-as-initial-manifestation
#5
Angelina Cistaro, Vincenzo La Delfa, Gianpaolo Di Rosa, Maurizio Cogoni, Natale Quartuccio
A 4-year old girl presenting gait difficulty was referred for spine X-ray and Magnetic Resonance Imaging (MRI). MRI showed several diffuse hypointense signals in sacral and lumbar vertebrae. In order to exclude a possible lymphoproliferative disease a 18-fluorodeoxyglucose positron emission tomography/computed tomography (18F-FDG-PET/CT) was requested. The PET/CT scan confirmed the MRI findings and demonstrated additional findings in the sternum. Therefore, a bone marrow biopsy was performed and a diagnosis of acute lymphoblastic leukaemia - early B type was made...
2017: Nuclear Medicine Review. Central & Eastern Europe
https://www.readbyqxmd.com/read/28216942/isolated-bone-marrow-metastasis-of-testicular-tumor-a-rare-cause-of-thrombocytopenia
#6
Uma Kumar, Prashant Ramteke, Prasenjit Das, Ajay Gogia, Pranay Tanwar
Isolated bone marrow metastasis of testicular tumor is very rare. Here, we report this case of a 21-year-old male who was admitted to our hospital with generalized body pain, which was severe and weakness for one month. He had a history of an operative intervention for the left testicular mass about 6 months ago which was diagnosed as mixed germ cell tumor on histopathological examination. The blood investigations showed anemia, low platelets, and elevated tumor markers. Bone marrow aspiration and biopsy examination showed metastatic deposits of mixed germ cell tumor...
January 2017: Urology Annals
https://www.readbyqxmd.com/read/28212666/classical-hodgkin-lymphoma-masquerading-as-chronic-recurrent-multifocal-osteomyelitis-a-case-report
#7
Michael Pham, Steven Ressler, Allison Rosenthal, Katalin Kelemen
BACKGROUND: Hodgkin lymphoma is a hematologic malignancy usually confined to lymphatic structures and commonly associated with constitutional symptoms. Bony involvement and musculoskeletal symptoms are uncommon and typically seen in advanced disease. In this case, we report an unusual presentation of classical Hodgkin lymphoma and highlight diagnostic challenges leading to the misdiagnosis and treatment as chronic recurrent multifocal osteomyelitis. CASE PRESENTATION: A 38-year-old white man presented with lower extremity musculoskeletal pain...
February 18, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28211888/discrepancies-between-the-percentage-of-plasma-cells-in-bone-marrow-aspiration-and-bm-biopsy-impact-on-the-revised-imwg-diagnostic-criteria-of-multiple-myeloma
#8
N Lee, S Y Moon, J-H Lee, H-K Park, S-Y Kong, S-M Bang, J H Lee, S-S Yoon, D S Lee
No abstract text is available yet for this article.
February 17, 2017: Blood Cancer Journal
https://www.readbyqxmd.com/read/28210839/thrombotic-microangiopathy-caused-by-methionine-synthase-deficiency-diagnosis-and-treatment-pitfalls
#9
Maria Helena Vaisbich, Andressa Braga, Maria Gabrielle, Clarissa Bueno, Flávia Piazzon, Fernando Kok
BACKGROUND: Inborn errors of cobalamin (Cbl) metabolism form a large group of rare diseases. One of these, Cbl deficiency type C (CblC), is a well-known cause of thrombotic microangiopathy (TMA), especially in infants. However, there has only been a single published case of TMA associated to Cbl deficiency type G (CblG), also known as methionine synthase deficiency (MSD). CASE DIAGNOSIS/TREATMENT: A 21-month-old boy presented with pallor and oral ulcers during episodes of upper respiratory infection (URI)...
February 16, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28209809/macrophage-to-myofibroblast-transition-contributes-to-interstitial-fibrosis-in-chronic-renal-allograft-injury
#10
Ying-Ying Wang, Hong Jiang, Jun Pan, Xiao-Ru Huang, Yu-Cheng Wang, Hong-Feng Huang, Ka-Fai To, David J Nikolic-Paterson, Hui-Yao Lan, Jiang-Hua Chen
Interstitial fibrosis is an important contributor to graft loss in chronic renal allograft injury. Inflammatory macrophages are associated with fibrosis in renal allografts, but how these cells contribute to this damaging response is not clearly understood. Here, we investigated the role of macrophage-to-myofibroblast transition in interstitial fibrosis in human and experimental chronic renal allograft injury. In biopsy specimens from patients with active chronic allograft rejection, we identified cells undergoing macrophage-to-myofibroblast transition by the coexpression of macrophage (CD68) and myofibroblast (α-smooth muscle actin [α-SMA]) markers...
February 16, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/28203345/sweet-s-syndrome-associated-with-clonal-hematopoiesis-of-indeterminate-potential-responsive-to-5-azacitidine
#11
REVIEW
George Yaghmour, Eric Wiedower, Bassam Yaghmour, Sara Nunnery, Eric Duncavage, Mike G Martin
Sweet's syndrome (SS) is a rare condition characterized by the abrupt appearance of painful skin lesions due to neutrophilic dermal infiltration. Hematologic neoplasms, particularly acute myeloid leukemia (AML) and myelodysplastic syndromes (MDSs), have been commonly reported in association with SS. Clonal hematopoiesis of indeterminate potential (CHIP) is an emerging entity that is a precursor state to myeloid neoplasms. CHIP has not been previously associated with SS. We report the case of a 71-year-old man who presented with recurrent, painful edematous and erythematous papules and nodules for 18 months despite treatment with corticosteroids...
February 2017: Therapeutic Advances in Hematology
https://www.readbyqxmd.com/read/28203342/optimizing-current-and-emerging-therapies-in-multiple-myeloma-a-guide-for-the-hematologist
#12
REVIEW
Shahzad Raza, Rachael A Safyan, Evan Rosenbaum, Alex S Bowman, Suzanne Lentzsch
Multiple myeloma (MM) is the second most common hematologic malignancy. The diagnosis of MM requires ⩾10% clonal plasma cells in the bone marrow or biopsy-proven plasmacytoma, plus evidence of end-organ damage (hypercalcemia, renal failure, anemia, and lytic bone lesions). The definition of MM has recently been expanded to include a ⩾60% clonal plasma cell burden in the bone marrow, serum involved/uninvolved light chain ratio of ⩾100, or more than one focal lesion on magnetic resonance imaging ⩾5 mm in the absence of end-organ damage...
February 2017: Therapeutic Advances in Hematology
https://www.readbyqxmd.com/read/28203178/a-patient-with-supraclavicular-lymphadenopathy-and-anterior-mediastinal-mass-presenting-as-a-rare-case-of-composite-lymphoma-a-case-report-and-literature-review
#13
Alex Raufi, James Jerkins, Yung Lyou, Deepa Jeyakumar
Composite lymphoma (CL) is a rare disease with 2 distinct lymphomas concurrently arising in a single patient with an estimated incidence of 1-4.7% of newly diagnosed lymphomas per year. CL most commonly involves 2 B-cell non-Hodgkin lymphomas (NHL) or a B-cell NHL with a Hodgkin lymphoma. Our case is unique in that it was a bilineage CL with both a T-cell and B-cell NHL, which has only been reported in a few case reports. A 49-year-old woman presented with several months of progressive cough, weight loss, dyspnea, and supraclavicular lymphadenopathy...
September 2016: Case Reports in Oncology
https://www.readbyqxmd.com/read/28202022/hematologic-manifestations-of-babesiosis
#14
REVIEW
Tamer Akel, Neville Mobarakai
BACKGROUND: Babesiosis, a zoonotic parasitic infection transmitted by the Ixodes tick, has become an emerging health problem in humans that is attracting attention worldwide. Most cases of human babesiosis are reported in the United States and Europe. The disease is caused by the protozoa of the genus Babesia, which invade human erythrocytes and lyse them causing a febrile hemolytic anemia. The infection is usually asymptomatic or self-limited in the immunocompetent host, or follows a persistent, relapsing, and/or life threatening course with multi-organ failure, mainly in the splenectomized or immunosuppressed patients...
February 15, 2017: Annals of Clinical Microbiology and Antimicrobials
https://www.readbyqxmd.com/read/28195263/kikuchi-fujimoto-disease-a-clinicopathologic-update
#15
F Pepe, S Disma, C Teodoro, P Pepe, G Magro
Kikuchi-Fujmoto disease (KFD), also known as "histiocytic necrotizing lymphadenitis", is a rare lymphadenitis of unknown origin, but with an excellent prognosis. It is more common in Asia, but isolated cases are also reported in America, Africa and Europe. The disease can have an acute or subacute course, usually develops in 1 to 3 weeks, with spontaneous resolution in 1-4 months. The main clinical sign is cervical lymphadenopathy, especially in the posterior cervical triangle with bulky and painful lymph nodes, usually affecting only one side; rare cases of generalized lymphadenopathy can be seen...
September 2016: Pathologica
https://www.readbyqxmd.com/read/28194019/il-25-stimulates-m2-macrophage-polarization-and-thereby-promotes-mitochondrial-respiratory-capacity-and-lipolysis-in-adipose-tissues-against-obesity
#16
Juan Feng, Lingyi Li, Zhiying Ou, Qiao Li, Baoyong Gong, Zhenxian Zhao, Weiwei Qi, Ti Zhou, Jun Zhong, Weibin Cai, Xia Yang, Aiping Zhao, Guoquan Gao, Zhonghan Yang
Obesity and associated metabolic diseases are characterized by a chronic low-grade inflammatory state with the infiltration of many inflammatory cells, especially macrophages. Immune molecules, including some cytokines, have a close relationship with metabolism. Interleukin (IL)-25 is a member of the IL-17 cytokine family that can regulate macrophages and alleviate some metabolic dysfunction; however, its role and mechanisms in lipid metabolism remain to be extensively clarified. Human serum and liver biopsy specimens, high-fat diet-induced obesity mice and DB/DB (Lepr-/-) animal models were used to examine IL-25 expression in obesity and nonalcoholic fatty liver diseases (NAFLD)...
February 13, 2017: Cellular & Molecular Immunology
https://www.readbyqxmd.com/read/28193996/a-case-report-of-primary-nasal-natural-killer-nk-t-cell-lymphoma-in-an-african-american-patient-presenting-with-hemophagocytic-syndrome
#17
Bowei Tan, Cherif Abdelmalek, James E O'Donnell, Thomas Toltaku, Rashid Chaudhry, Jen C Wang, Vladimir Gotlieb
BACKGROUND Extranodal natural killer/T-cell lymphoma, nasal type (ENKTCL) is generally an aggressive and rare non-Hodgkin lymphoma. It is most common in East Asians, Native Americans, and South Americans, but is rarely reported in blacks. CASE REPORT A 55-year-old African American male born in Grenada presented with a left nostril mass with facial swelling and biopsy subsequently confirmed a diagnosis of extranodal NK/T-cell lymphoma, nasal type (ENKTCL). Immunochemistry was positive for CD2, cytoplasmic CD3, CD7, CD 43, CD 56, granzyme B, and TIA-1...
February 14, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28191591/plasmacytoid-dendritic-cell-proliferations-and-neoplasms-involving-the-bone-marrow-summary-of-the-workshop-cases-submitted-to-the-18th-meeting-of-the-european-association-for-haematopathology-eahp-organized-by-the-european-bone-marrow-working-group-basel-2016
#18
Alexandar Tzankov, Konnie Hebeda, Markus Kremer, Roos Leguit, Attilio Orazi, Jon van der Walt, Umberto Gianelli
Two distinct forms of neoplasms derived from plasmacytoid dendritic cells (PDC) exist: mature PDC proliferations associated with myeloid neoplasms and blastic PDC neoplasms (BPDCN). Ten cases of PDC proliferations and neoplasms in the bone marrow have been submitted to the bone marrow workshop held at the 18th EAHP meeting. Based on observations from the submitted cases, scattered PDC (≤1% of cells) and PDC aggregates (≤10 PDC/HPF) reflect the normal bone marrow composition, while in myelodysplastic syndromes (MDS), there is a propensity for larger/more PDC aggregates (1-5% and 35 PDC/HPF)...
February 12, 2017: Annals of Hematology
https://www.readbyqxmd.com/read/28190866/splenic-marginal-zone-lymphoma-uncovered-after-a-10-year-follow-up-as-anemia-of-unknown-cause
#19
Asumi Koyama, Chieko Shiotani, Toshio Kurihara, Toshiki Mushino, Yukiharu Okamoto, Tatsunori Tamaki, Takashi Ozaki, Kouichi Ohshima, Shinobu Tamura
A 75-year-old man was referred to our hospital for evaluation of persistent anemia. Despite repeated diagnostic tests, including bone marrow aspiration, the cause of his anemia remained unknown. On each occasion, computed tomography had revealed neither swollen lymph nodes nor splenomegaly. After a 10-year follow-up period, he was admitted with general fatigue and had developed splenomegaly as well as the anemia. Bone marrow biopsy revealed increased abnormal lymphocytes with short villi that were positive for CD11c, CD19, CD20, and kappa chain, but not for CD5, CD10, CD23, or cyclin D1, according to flow cytometry...
2017: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
https://www.readbyqxmd.com/read/28190861/acute-undifferentiated-leukemia-stem-cell-acute-leukemia-showing-differentiation-to-langerhans-cell-like-cells-in-lymph-nodes
#20
Takanori Fukuta, Shu Nakamoto, Yoshinori Hashimoto, Takayuki Tanaka, Yusuke Tokuyasu, Junko Maruyama, Hiromi Omura, Norihiko Hino, Satoshi Kuwamoto, Ichiro Murakami
A 75-year-old woman was referred to our hospital with suspected leukemia. Complete blood count demonstrated WBC 3,810/µl with 26% blasts, Hb of 11.7 g/dl and Plt of 18.0×10(4)/µl. Bone marrow aspiration revealed blasts (86.3%) with expressions of CD34, CD7, TdT, CD33, and CD117. MPO was negative. Chromosomal analysis of the bone marrow showed isolated trisomy 10 in all leukemic cells (20/20). Swelling of superficial lymph nodes was also observed. Cervical lymph node biopsy revealed leukemic blasts which had the same phenotype as those in the bone marrow except that proliferation of Langerhans cell-like cells (LCs) was observed in the paracortex...
2017: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
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