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Rare anemias

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https://www.readbyqxmd.com/read/27920990/angiosarcoma-of-the-adrenal-gland-treated-using-a-multimodal-approach
#1
Jay G Fuletra, Benjamin T Ristau, Barton Milestone, Harry S Cooper, Alysia Browne, Sujana Movva, Thomas J Galloway, Randall Lee, Nikhil Waingankar, Alexander Kutikov
Angiosarcoma of the adrenal gland is an extremely rare malignancy. We report a case of a 59-year-old female who presented with abdominal pain and profound anemia. A 7 cm enhancing, lipid-poor adrenal mass with calcifications that extended posterior to the vena cava was identified on imaging. Patient underwent right adrenalectomy with retroperitoneal lymph node dissection. Pathology demonstrated angiosarcoma of the adrenal gland. Consolidative treatment included adjuvant radiation and chemotherapy. Patient remains disease free 1...
January 2017: Urology Case Reports
https://www.readbyqxmd.com/read/27920659/obscure-gastrointestinal-bleeding-due-to-a-small-intestinal-gastrointestinal-stromal-tumor-in-a-young-adult
#2
Mami Yamamoto, Kentaroh Yamamoto, Hirotaka Taketomi, Fumio Yamamoto, Hiroshi Yamamoto
The source of most cases of gastrointestinal bleeding is the upper gastrointestinal tract. Since bleeding from the small intestine is very rare and difficult to diagnose, time is required to identify the source. Among small intestine bleeds, vascular abnormalities account for 70-80%, followed by small intestine tumors that account for 5-10%. The reported peak age of the onset of small intestinal tumors is about 50 years. Furthermore, rare small bowel tumors account for only 1-2% of all gastrointestinal tumors...
September 2016: Case Reports in Gastroenterology
https://www.readbyqxmd.com/read/27920655/deep-vein-thrombosis-as-initial-manifestation-of-whipple-disease
#3
Mônica Souza de Miranda Henriques, Alexandre Rolim da Paz, Ana Beatriz Person Gaertner, Cibelle Ingrid Stephen Melo, Priscyanne Lins Filgueiras, Rafaella Alencar Jerome
INTRODUCTION: Wipple disease (WD) is a rare chronic disease caused by the bacillus Tropheryma whipplei. Constitutive, rheumatologic, gastrointestinal, cardiac, cerebral, lymphatic, cutaneous, and ophthalmological signs are possible systemic symptoms. However, thrombotic manifestations are rarely described as "stroke-like syndrome" or arterial thrombosis. Diagnosis is based on clinical manifestations and pathological examination. Laboratory findings may include anemia, leukocytosis, and thrombocytosis...
September 2016: Case Reports in Gastroenterology
https://www.readbyqxmd.com/read/27920648/synchronous-adenocarcinoma-of-the-colon-and-rectal-carcinoid
#4
Vamshidhar Vootla, Rafeeq Ahmed, Masooma Niazi, Bhavna Balar, Suresh Nayudu
Primary colonic adenocarcinoma and synchronous rectal carcinoids are rare tumors. Whenever a synchronous tumor with a nonmetastatic carcinoid component is encountered, its prognosis is determined by the associate malignancy. The discovery of an asymptomatic gastrointestinal carcinoid during the operative treatment of another malignancy will usually only require resection without additional treatment and will have little effect on the prognosis of the individual. This article reports a synchronous rectal carcinoid in a patient with hepatic flexure adenocarcinoma...
September 2016: Case Reports in Gastroenterology
https://www.readbyqxmd.com/read/27919500/favorable-outcome-of-interferon-beta-associated-thrombotic-microangiopathy-following-treatment-with-corticosteroids-plasma-exchange-and-rituximab-a-case-report
#5
Lea M Gerischer, Eberhard Siebert, Oliver Janke, Gerhard Jan Jungehuelsing, Klemens Ruprecht
Thrombotic microangiopathy (TMA) is a rare but increasingly recognized complication of interferon-beta therapy, which can be associated with serious sequelae. We report on a 53-year-old woman with a longstanding history of relapsing-remitting multiple sclerosis, who developed TMA after 15 years of high-dose treatment with subcutaneous interferon-beta-1a. The patient presented with headaches, an epileptic seizure, confusion, and arterial hypertension. Laboratory findings included thrombocytopenia and hemolytic anemia...
November 2016: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/27917497/acquired-factor-xiii-inhibitor-associated-with-mantle-cell-lymphoma
#6
Christian P Nixon, Elizabeth H Prsic, Christine A Guertin, Ryan L Stevenson, Joseph D Sweeney
BACKGROUND: Acquired Factor (F)XIII deficiency is a very rare bleeding diathesis with a potentially fatal outcome, previously described in the context of autoimmune disorders and leukemias. There is minimal information on autoantibody characterization and the role of antifibrinolytic therapy in patient management. CASE REPORT: A 79-year-old woman with a 3-month history of bruising and heavy menorrhagia presented with ongoing vaginal bleeding, symptomatic anemia, and a right thigh hematoma...
December 4, 2016: Transfusion
https://www.readbyqxmd.com/read/27916060/-the-453rd-case-diarrhea-weight-loss-and-diabetes-mellitus
#7
S T Wang, D R Zhong, X H Sun
Chronic diarrhea is a common complaint in gastroentology department, which is classified into a variety of types. While as eosinophilic gastroenteritis is a rare cause. A 50-year-old male patient was admitted with a 2-year history of diarrhea worsened for 10 months. Fasting could alleviate the diarrhea. Laboratory findings demonstrated anemia, low vitamins and minerals, fat malabsorption and abnormal D-xylose absorption test, delayed gastric emptying. According to the endoscopic biopsy of gastrointestinal mucosa, the diagnosis of eosinophilic gastroenteritis was made...
December 1, 2016: Zhonghua Nei Ke za Zhi [Chinese Journal of Internal Medicine]
https://www.readbyqxmd.com/read/27914067/5q-syndrome-like-features-as-the-first-manifestation-of-myelodysplastic-syndrome-in-a-patient-with-an-unbalanced-whole-arm-translocation-der-5-19-p10-q10
#8
Hiroshi Ureshino, Haruna Kizuka, Kana Kusaba, Haruhiko Sano, Atsujiro Nishioka, Takero Shindo, Yasushi Kubota, Toshihiko Ando, Kensuke Kojima, Shinya Kimura
Derivative (5;19)(p10;q10) [der(5;19)(p10;q10)] is a rare chromosomal abnormality in myelodysplastic syndrome (MDS), and is genetically similar to deletion 5q [del(5q)]. However, MDS with der(5;19)(p10;q10) and 5q- syndrome are generally characterized as distinct subtypes. Here, we report a case of a patient with 5q- syndrome-like features as the first manifestation of MDS with der(5; 19)(p10;q10). A 59-year-old woman was admitted to our hospital for anemia without leukopenia and thrombocytopenia. She had received chemotherapy comprising carboplatin and docetaxel for endometrial cancer eight years before...
December 2, 2016: International Journal of Hematology
https://www.readbyqxmd.com/read/27913548/warm-antibody-autoimmune-hemolytic-anemia
#9
Theodosia A Kalfa
Autoimmune hemolytic anemia (AIHA) is a rare and heterogeneous disease that affects 1 to 3/100 000 patients per year. AIHA caused by warm autoantibodies (w-AIHA), ie, antibodies that react with their antigens on the red blood cell optimally at 37°C, is the most common type, comprising ∼70% to 80% of all adult cases and ∼50% of pediatric cases. About half of the w-AIHA cases are called primary because no specific etiology can be found, whereas the rest are secondary to other recognizable underlying disorders...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27913534/myelodysplastic-and-myeloproliferative-disorders-of-childhood
#10
Henrik Hasle
Myelodysplastic syndrome (MDS) and myeloproliferative disorders are rare in children; they are divided into low-grade MDS (refractory cytopenia of childhood [RCC]), advanced MDS (refractory anemia with excess blasts in transformation), and juvenile myelomonocytic leukemia (JMML), each with different characteristics and management strategies. Underlying genetic predisposition is recognized in an increasing number of patients. Germ line GATA2 mutation is found in 70% of adolescents with MDS and monosomy 7. It is challenging to distinguish RCC from aplastic anemia, inherited bone marrow failure, and reactive conditions...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27913465/aplastic-anemia-and-clonal-evolution-germ-line-and-somatic-genetics
#11
Akiko Shimamura
Clonal progression to myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML) remains a dreaded complication for a subset of patients with bone marrow failure (BMF). Recognizing risk factors for the development of MDS or AML would inform individualized treatment decisions and identify patients who may benefit from early or upfront hematopoietic stem cell transplantation. Now that next-generation DNA sequencing is available in the clinical laboratory, research has focused on the implications of germ line and somatic mutations for diagnosing and monitoring patients with BMF...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27913464/new-challenges-in-evaluating-anemia-in-older-persons-in-the-era-of-molecular-testing
#12
David P Steensma
Anemia is common in older persons, and often remains unexplained despite a thorough clinical history, physical examination, and focused laboratory testing, including marrow aspiration, biopsy, and karyotyping. The advent of molecular genetic testing panels in hematology clinical practice has complicated the evaluation of older patients with unexplained anemia. While the presence of a somatic mutation provides evidence of clonal hematopoiesis and may support a diagnosis of a hematologic neoplasm such as one of the myelodysplastic syndromes (MDS), with rare exceptions, individual mutations are not strongly associated with one specific diagnosis, nor are they by themselves diagnostic of neoplasia...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27906107/previously-undiagnosed-hereditary-spherocytosis-in-a-patient-with-jaundice-and-pyelonephritis-a-case-report
#13
Yuki Tateno, Ryoji Suzuki, Yukihiro Kitamura
BACKGROUND: Hereditary spherocytosis is autosomal dominant inherited extravascular hemolytic disorder and is the commonest cause of inherited hemolysis in northern Europe and the United States. The classical clinical features of hereditary spherocytosis are anemia, jaundice, and splenomegaly. However, all of these classical features are not always revealed in the case of mild hemolysis or when hemolysis is well compensated. Patients with hereditary spherocytosis may remain undiagnosed for years if their hemolysis is mild...
December 1, 2016: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/27904864/nephrotic-range-proteinuria-and-peripheral-edema-in-a-child-not-only-idiopathic-nephrotic-syndrome
#14
Valentina Dolcemascolo, Marina Vivarelli, Manuela Colucci, Francesca Diomedi-Camassei, Rossella Piras, Marta Alberti, Francesco Emma
Hemolytic uremic syndrome (HUS) is defined by the simultaneous occurrence of hemolytic anemia, thrombocytopenia, and acute kidney injury due to thrombotic microangiopathy (TMA) mainly occurring in renal and cerebral microvessels. Although the most common cause of HUS in children is Shiga toxin-producing Escherichia coli, atypical forms in which Shiga toxin is not the trigger may occur. Research over the last few years has shown that complement dysregulation secondary to mutations of genes coding for proteins involved in the regulation of the alternative pathway of complement account for most forms of atypical HUS (aHUS)...
September 2016: Case Reports in Nephrology and Dialysis
https://www.readbyqxmd.com/read/27904106/fatal-hemorrhagic-gastrointestinal-angioectasia-after-bone-marrow-transplantation-for-dyskeratosis-congenita
#15
Jin Imai, Takayoshi Suzuki, Marie Yoshikawa, Makiko Dekiden, Hirohiko Nakae, Fumio Nakahara, Shingo Tsuda, Hajime Mizukami, Jun Koike, Muneki Igarashi, Hiromasa Yabe, Tetsuya Mine
Dyskeratosis congenita (DC) is a rare inherited disease in which the telomere complex cannot be maintained. Shortened telomeres can cause a number of clinical conditions. We herein report a case of unrelated bone marrow transplantation due to aplastic anemia associated with DC. The patient died of uncontrollable refractory intestinal bleeding. Three cases of DC with life-threatening hemorrhaging after transplantation have been reported; however, the bleeding origin could not be determined. Our case is the only patient in which a gastrointestinal bleeding point, jejunal multiple angioectasia, was determined...
2016: Internal Medicine
https://www.readbyqxmd.com/read/27898514/a-rare-combination-of-thrombotic-thrombocytopenic-purpura-and-antiphospholipid-syndrome
#16
Maya Viner, Irina Murakhovskaya
Thrombocytopenia, in the setting of microangiopathic hemolytic anemia and thrombotic events, is characteristic of both thrombotic thrombocytopenic purpura and primary antiphospholipid syndrome. Clinically, it is difficult to distinguish between these two syndromes. We present a 41-year-old woman with chronic, relapsing thrombotic thrombocytopenic purpura in the presence of antiphospholipid antibodies. She had clinical manifestations of antiphospholipid syndrome without meeting laboratory criteria of the Sydney classification system...
November 24, 2016: Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis
https://www.readbyqxmd.com/read/27898170/peripartum-cardiomyopathy-experience-at-a-tertiary-care-center-in-puerto-rico
#17
Anthony D Osterman-Pla, Ronald López-Cepero, Luis Jiménez, Josefina Romaguera, Juan Aranda
OBJECTIVE: Peripartum cardiomyopathy is a rare type of heart failure to which only pregnant women are susceptible. In Puerto Rico there is a paucity of information regarding this condition. In this report we describe our experience with peripartum cardiomyopathy. METHODS: This was a descriptive retrospective study. We conducted a chart review of all the patients with peripartum cardiomyopathy managed at our institution from January 2006 through December 2012. A total of 12 patients qualified for our analysis...
December 2016: Puerto Rico Health Sciences Journal
https://www.readbyqxmd.com/read/27893685/acute-liver-failure-caused-by-hemophagocytic-lymphohistiocytosis-in-adults-a-case-report-and-review-of-the-literature
#18
Shide Lin, Ying Li, Jun Long, Qichuan Liu, Fangwan Yang, Yihuai He
BACKGROUND: Hemophagocytic lymphohistiocytosis (HLH) is a rare condition that can be caused by a primary or acquired disorder of uncontrolled immune response. Liver injury is a common complication of HLH; however, HLH presenting as acute liver failure (ALF) has rarely been reported in adults. CASE SUMMARY: A 34-year-old man was admitted to our hospital with nausea and fatigue persisting for 2 weeks and jaundice for 1 week. He had hyperthermia at the onset of disease...
November 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27884173/revisiting-the-morbid-genome-of-mendelian-disorders
#19
Mohamed Abouelhoda, Tariq Faquih, Mohamed El-Kalioby, Fowzan S Alkuraya
BACKGROUND: The pathogenicity of many Mendelian variants has been challenged by large-scale sequencing efforts. However, many rare and benign "disease mutations" are difficult to analyze due to their rarity. The Saudi Arabian variome is enriched for homozygosity due to inbreeding, a key advantage that can be exploited for the critical examination of previously published variants. RESULTS: We collated all "disease-related mutations" listed in the Human Gene Mutation Database (HGMD) and ClinVar, including "variants of uncertain significance" (VOUS)...
November 24, 2016: Genome Biology
https://www.readbyqxmd.com/read/27882484/diagnostic-challenge-of-diamond-blackfan-anemia-in-mothers-and-children-by-whole-exome-sequencing
#20
Takuya Ichimura, Kenichi Yoshida, Yusuke Okuno, Toshiaki Yujiri, Kozo Nagai, Masanori Nishi, Yuichi Shiraishi, Hiroo Ueno, Tsutomu Toki, Kenichi Chiba, Hiroko Tanaka, Hideki Muramatsu, Toshiro Hara, Hitoshi Kanno, Seiji Kojima, Satoru Miyano, Etsuro Ito, Seishi Ogawa, Shouichi Ohga
Diamond-Blackfan anemia (DBA) is a pure red cell aplasia that arises from defective ribosomal proteins (RPs). Patients with this rare ribosomopathy present with neonatal anemia and occasional dysmorphism. Clinical heterogeneity and clusters of causative RP genes hamper the diagnosis and perinatal management. We report three mother-and-child pairs of anemia who were finally diagnosed by whole-exome sequencing. Each pair showed distinct disease severity and response to anemia treatment. Only one mother had the diagnostic dysmorphism, including short stature, webbed neck, and thenar hypoplasia...
November 23, 2016: International Journal of Hematology
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