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Kinga A Kocemba-Pilarczyk, Barbara Ostrowska, Sonia Trojan, Ecce Aslan, Dorota Kusior, Małgorzata Lasota, Claire Lenouvel, Joanna Dulińska-Litewka
Multiple myeloma (MM) is characterized as a clonal expansion of malignant plasma cells in the bone marrow, which is often associated with pancytopenia and osteolytic bone disease. Interestingly, myeloma-infiltrated bone marrow is considered to be hypoxic, providing selection pressure for a developing tumour. Since HSP90 was shown to participate in stabilization of the subunit of the key transcription factor HIF-1, which controls the hypoxic response, the aim of this study was to investigate the influence of a HSP90 inhibitor 17-Allylamino-17-demethoxygeldanamycin (17-AAG), on MM cells cultured under low oxygenation conditions...
March 15, 2018: Acta Biochimica Polonica
Josef Davidsson, Andreas Puschmann, Ulf Tedgård, David Bryder, Lars Nilsson, Jörg Cammenga
Germline mutations in the SAMD9 and SAMD9L genes, located in tandem on chromosome 7, are associated with a clinical spectrum of disorders including the MIRAGE syndrome, ataxia-pancytopenia syndrome and myelodysplasia and leukemia syndrome with monosomy 7 syndrome. Germline gain-of-function mutations increase SAMD9 or SAMD9L's normal antiproliferative effect. This causes pancytopenia and generally restricted growth and/or specific organ hypoplasia in non-hematopoietic tissues. In blood cells, additional somatic aberrations that reverse the germline mutation's effect, and give rise to the clonal expansion of cells with reduced or no antiproliferative effect of SAMD9 or SAMD9L include complete or partial chromosome 7 loss or loss-of-function mutations in SAMD9 or SAMD9L...
February 25, 2018: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
George D Liatsos, Ioanna Tsironi, Dimitrios Vassilopoulos, Spyridon Dourakis
In severe cases of pancytopenia with subsequent infections due to long-term untreated Felty's syndrome, the initiation of immunosuppressive treatment with sole prednisone (1 mg/kg iv ) should be considered, despite that, the low neutrocytes count would make one physician hesitant. A full resolution of whole blood count within 3 weeks and a 30% reduction in spleens sized was noted.
March 2018: Clinical Case Reports
Jan Miechowiecki, Waltraud Stainer, Gertraud Wallner, Herwig Tuppy, Walter Aichinger, Wolfgang Prammer, Andreas Kirchgatterer
INTRODUCTION:  Immunosuppressive therapy is today's standard treatment of patients with moderate to severe inflammatory bowel disease (IBD). The risk for opportunistic infections is increased due to this therapy and is a concern in the management of patient with IBD undergoing such a treatment. CASE REPORT:  In this paper, we describe a case of an acute cytomegalovirus (CMV) infection in a 35-year-old male patient with Crohn's disease being in remission while receiving azathioprine therapy...
March 2018: Zeitschrift Für Gastroenterologie
Vishnu Vardhan Garla, Sohail Abdul Salim, Licy L Yanes-Cardozo
A 27-year-old male patient who presented to the emergency room with complaints of sweating, palpitations, heat intolerance, insomnia and weight loss for the last 3 months. His medical history was significant for hypertension. On examination, he was tachycardic, hypertensive, had tremors of the upper extremities and a smooth goitre with a thyroid bruit. Laboratory assessment revealed a suppressed thyroid-stimulating hormone, high free thyroxine and positive thyroid receptor antibodies. Complete blood count showed pancytopenia...
March 9, 2018: BMJ Case Reports
Anna Teti, Steven L Teitelbaum
Bone and marrow are the two facets of the same organ, in which bone and hematopoietic cells coexist and interact. Marrow and skeletal tissue influence each-other and a variety of genetic disorders directly targets both of them, which may result in combined hematopoietic failure and skeletal malformations. Other conditions primarily affect one organ with secondary influences on the other. For instance, various forms of congenital anemias reduce bone mass and induce osteoporosis, while osteoclast failure in osteopetrosis prevents marrow development reducing medullary cavities and causing anemia and pancytopenia...
March 6, 2018: Bone
Weijie Li, Mukta Sharma
No abstract text is available yet for this article.
March 8, 2018: Blood
N Fakhfakh, R Abdelmlak, S Aissa, A Kallel, Y Boudawara, S Bel Hadj, N Ben Romdhane, H Touiri Ben Aissa, K Kallel
Histoplasmosis is a fungal infection caused by a dimorphic fungus, Histoplasma capsulatum. We report a first case of disseminated histoplasmosis in a 34-year-old woman, infected with human immunodeficiency virus (HIV), originating from Ivory Coast and living in Tunisia for 4 years. She was complaining from fever, chronic diarrhoea and pancytopenia. The Histoplasma capsulatum var. capsulatum was identified by direct microscopic examination of the bone marrow. She was treated by Amphotericin B, relayed by itraconazole...
March 5, 2018: Journal de Mycologie Médicale
Shintaro Watanuki, Taku Kikuchi, Takaaki Toyama, Ryohei Abe, Hitomi Nakayama, Daiki Karigane, Takayuki Shimizu, Jun Kikuchi, Kotaro Matsumoto, Hidetaka Yasuoka, Masaharu Kataoka, Shinichiro Okamoto, Takehiko Mori
A 37-year-old woman was diagnosed with chronic phase chronic myeloid leukemia. Nilotinib treatment was initiated; however, it had to be discontinued due to an allergic reaction one month later, and dasatinib treatment was provided. Although favorable response was obtained, she started complaining of shortness of breath 7 months after initiating dasatinib treatment. Chest X-ray and echocardiography indicated pulmonary congestion and hypertension. Further, she was diagnosed with mixed connective tissue disease (MCTD) based on Raynaud phenomenon, swollen fingers, sclerodactyly, pancytopenia, hypocomplementemia, and positive anti-U1-RNP antibody...
2018: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
Cahit Kural, Mehmet Ilker Ozer, Mehmet Can Ezgu, Royal Mehtiyev, Soner Yasar, Ahmet Murat Kutlay, Mehmet Kadri Daneyemez, Onder Onguru, Ersin Erdogan, Yusuf Izci
Intracranial aspergillosis is a rare infectious disease of the central nervous system with high mortality rates. Our aim is to present 3 cases of intracranial aspergillosis who were surgically treated with intracavitary amphotericin B administration. First case was a 21-year-old male patient. Allogeneic stem cell transplantation treatment was performed because of aplastic anemia and vocal cord paralysis developed 10 days after treatment. Multiple aspergillosis abscesses were observed in the cranial magnetic resonance imaging (MRI)...
March 2, 2018: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
Chamara Dalugama, Indika Bandara Gawarammana
BACKGROUND: Tuberculosis is a major health problem in the developing world. Diagnosis of extrapulmonary tuberculosis is delayed because the presentation is nonspecific. Extrapulmonary tuberculosis can present with various hematological manifestations, including pancytopenia. Pancytopenia could be due to hypersplenism, maturation arrest, hemophagocytic lymphohistiocytosis, or infiltration of the bone marrow by caseating or noncaseating granulomas causing reversible or irreversible fibrosis...
March 6, 2018: Journal of Medical Case Reports
Eigil Kjeldsen, Christopher Veigaard, Anni Aggerholm, Henrik Hasle
Congenital hypoplastic bone marrow failure is a rare condition in neonates. The genetics and mechanisms behind are largely obscure. Here we characterize a neonate presenting with congenital thrombocytopenia and anemia. During the first 2-4 weeks after birth the neonate developed severe neutropenia while the lymphoid lineages were unaffected. The neonate was without dysmorphic signs. A de novo mono-allelic constitutional microdeletion of 175.1 kb at 3q26.2 affecting exon 2 of MECOM, involving MDS1 but not EVI1, was identified as the only copy number alteration by oligo-based array-CGH analysis...
February 26, 2018: Gene
Mustafa Resorlu, Nilufer Aylanc, Ozan Karatag, Canan Akgun Toprak
Gaucher's disease is characterized by glucocerebroside accumulation in the cells of the reticuloendothelial system. There are three subtypes. The most common is type 1, known as the non-neuropathic form. Pancytopenia, hepatosplenomegaly and bone lesions occur as a result of glucocerebroside accumulation in the liver, lung, spleen and bone marrow in these patients. Findings associated with liver, spleen or bone involvement may be seen at radiological analysis. Improvement in extraskeletal system findings is seen with enzyme replacement therapy...
December 2017: Revista da Associação Médica Brasileira
David Zekria, Peter Boavida
Paroxysmal nocturnal haemoglobinuria, a rare, acquired, life-threatening disease of the blood, is characterised by a triad of haemolysis previously believed to occur mainly at night, bone marrow dysfunction, and thrombophilia. Paroxysmal nocturnal haemoglobinuria is customarily regarded to manifest clinically as haemolytic anaemia and haemoglobinuria experienced as reddened urine in the morning, pancytopenia, and thrombosis. We describe a case in which an abnormal segment of small bowel as visualised on computed tomography was the principal sign of the disease process on presentation...
December 2017: Radiology Case Reports
M A Sargsyan, H E Voskanyan, E M Karalova, L H Hakobyan, Z A Karalyan
Aim: First cases of clinically uncommon African swine fever (ASF), caused by virus genotype II are described in this article. These cases occurred in Armenia, Tavush region, Dilijan municipality in 2011. The aim of this study was to identify and describe the new pathogenic forms of ASF in Armenia. Materials and Methods: The isolation and identification of ASF virus (ASFV) were carried out using conventional techniques. Clinical signs of infection were recorded daily...
January 2018: Veterinary World
Motoshi Sonoda, Masataka Ishimura, Yuko Ichimiya, Eiko Terashi, Katsuhide Eguchi, Yasunari Sakai, Hidetoshi Takada, Asahito Hama, Hitoshi Kanno, Tsutomu Toki, Etsuro Ito, Shouichi Ohga
Diamond-Blackfan anemia (DBA) is a congenital red cell aplasia arising from ribosomal protein (RP) defects. Affected patients present with neonatal anemia, occasional dysmorphism, and cancer predisposition. An anemic newborn was diagnosed with DBA due to RPL5 mutation (c.473_474del, p.K158SfsX26). Refractory anemia required regular transfusions and iron chelation therapy. Pancytopenia occurred at age 16 years. Bone-marrow studies showed myelodysplasia, erythroblastosis, and clonal evolution of del(20)(q11...
February 23, 2018: International Journal of Hematology
Montserrat Rodriguez-Reyes, Javier Marco-Hernandez, Pedro Castro-Rebollo, Dolors Soy-Muner
Mitomycin C as a treatment for superficial bladder carcinomas and upper urinary tract tumours has been linked to local adverse events. Systemic toxicity has been documented for just a very few cases. This report presents a case of interstitial pneumonitis accompanied by myelosuppression in a 74-year-old patient after receiving the fifth administration of mitomycin C through a ureteral catheter as a treatment for left kidney pyelocaliceal urothelial carcinoma. Therefore, suspecting mitomycin C toxicity, urinary tract instillations were discontinued, and intravenous filgrastim and methylprednisolone were initiated...
January 1, 2018: Journal of Oncology Pharmacy Practice
Jayna Mistry, Graham Knee, Vishal Jayakar
No abstract text is available yet for this article.
February 21, 2018: BMJ Case Reports
Hillary Elizabeth Lockemer, Kathryn Maria Sumpter, Sandy Cope-Yokoyama, Abhimanyu Garg
BACKGROUND: Acquired lipodystrophy, craniopharyngioma and chronic inflammatory demyelinating polyneuropathy (CIDP) are individually rare disorders, and have never before been reported in a single patient. CASE PRESENTATION: A 15-year-7 month old Caucasian male presented with lower extremity weakness, frequent falls and abnormal fat distribution occurring over the previous 1 year. He was diagnosed with CIDP, craniopharyngioma and acquired lipodystrophy. The patient underwent tumor debulking and cranial irradiation for the craniopharyngioma, and received monthly intravenous immunoglobulin for the CIDP...
February 19, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
Hiroyuki Mori, Kei Ebisawa, Mitsushige Nishimura, Kenji Kanazawa
Extranodal natural killer (NK)/T cell lymphoma, nasal type is a condition that has poor prognosis. Accurate diagnosis of lymphoma is made by pathological findings. We report a case of extranodal NK/T cell lymphoma, nasal type affecting the lung and liver and which was difficult to diagnose because of negative biopsy results from multiple sites. A 39-year-old man who had dry cough and fever for 1 month was referred to our hospital. He had pancytopenia and elevated serum levels of lactate dehydrogenase and soluble interleukin-2 receptor...
February 17, 2018: BMJ Case Reports
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