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https://www.readbyqxmd.com/read/29143887/diagnosis-and-treatment-of-aplastic-anemia
#1
REVIEW
Scott A Peslak, Timothy Olson, Daria V Babushok
Acquired aplastic anemia (AA) is a rare, life-threatening bone marrow failure (BMF) disorder that affects patients of all ages and is caused by lymphocyte destruction of early hematopoietic cells. Diagnosis of AA requires a comprehensive approach with prompt evaluation for inherited and secondary causes of bone marrow aplasia, while providing aggressive supportive care. The choice of frontline therapy is determined by a number of factors including AA severity, age of the patient, donor availability, and access to optimal therapies...
November 16, 2017: Current Treatment Options in Oncology
https://www.readbyqxmd.com/read/29142524/a-case-of-celiac-disease-with-neurologic-manifestations-misdiagnosed-as-amyotrophic-lateral-sclerosis
#2
Hyoju Ham, Bo-In Lee, Hyun Jin Oh, Se Hwan Park, Jin Su Kim, Jae Myung Park, Young Seok Cho, Myung-Gyu Choi
Celiac disease (CD) is an immune-mediated enteropathy and is a rare disease in Asia, including in Korea. However, the ingestion of wheat products, which can act as a precipitating factor of CD, has increased rapidly. CD is a common cause of malabsorption, but many patients can present with various atypical manifestations as first presented symptoms, including anemia, osteopenia, infertility, and neurological symptoms. Thus, making a diagnosis is challenging. We report a case of CD that mimicked amyotrophic lateral sclerosis (ALS)...
October 2017: Intestinal Research
https://www.readbyqxmd.com/read/29137058/anemia-and-thrombocytopenia-as-initial-symptoms-of-occult-breast-cancer-with-bone-marrow-metastasis-a-case-report
#3
Lulu Liu, Jingjing Zhang, Mingtai Chen, Saisai Ren, Haihui Liu, Hao Zhang
RATIONALE: Occult breast cancer (OBC) is a rare type of breast cancer without any symptoms in the breast and is often presented with initial symptoms of axillary lymph node metastasis or other metastases. The low incidence rates of OBC make it a great challenge to diagnose and cure. PATIENT CONCERNS: Our case was a 58-year-old female affected by dizziness and fatigue for nearly a month. Blood tests revealed anemia and thrombocytopenia, and pathological results of a bone marrow biopsy confirmed the metastatic carcinoma...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29135841/severe-warm-autoimmune-hemolytic-anemia-in-a-7-month-old-infant-associated-with-a-mycoplasma-pneumoniae-infection
#4
Cierra Wandro, Leili Dolatshahi, Douglas Blackall
A 7-month-old female infant had clinical and laboratory evidence of severe warm autoimmune hemolytic anemia. She also had clinical evidence of an upper respiratory tract infection with molecular detection of Mycoplasma pneumoniae. Although reticulocytopenic initially, she responded to red blood cell transfusion, steroids, and intravenous immunoglobulin and remains well today. With the increasing use of multiplex respiratory viral and bacterial pathogen detection systems, the rare association described in this report may prove to be more common than previously thought and may provide insight into the pathogenesis and clinical consequences of red blood cell autoantibodies...
November 13, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29133754/comparison-of-clinical-features-between-pyoderma-gangrenosum-concomitant-by-inflammatory-bowel-disease-and-idiopathic-pyoderma-gangrenosum
#5
Yan-Yun Jiang, Ji Li, Yue Li, Qiang Wang, Shuang Liu, Kai Fang, Jia-Ming Qian, Hong-Zhong Jin
BACKGROUND: Pyoderma gangrenosum (PG) is a rare neutrophilic dermatosis that is highly associated with inflammatory bowel disease (IBD). Certain PG patients with no systemic disorders have been diagnosed with idiopathic PG. This study sought to clarify the difference between PG with IBD and idiopathic PG based on clinical features, laboratory tests, and medications. METHODS: Twelve patients with PG and IBD and 24 patients with idiopathic PG, who were hospitalized in Peking Union Medical College Hospital from 2000 to 2017, were retrospectively categorized into the IBD group and control group, respectively...
November 20, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/29133208/homozygous-loss-of-function-brca1-variant-causing-a-fanconi-anemia-like-phenotype-a-clinical-report-and-review-of-previous-patients
#6
Bruna L Freire, Thais K Homma, Mariana F A Funari, Antônio M Lerario, Aline de Medeiros Leal, Elvira D Rodrigues Pereira Velloso, Alexsandra C Malaquias, Alexander A L Jorge
BACKGROUND: Fanconi Anemia (FA) is a rare and heterogeneous genetic syndrome. It is associated with short stature, bone marrow failure, high predisposition to cancer, microcephaly and congenital malformation. Many genes have been associated with FA. Previously, two adult patients with biallelic pathogenic variant in Breast Cancer 1 gene (BRCA1) had been identified in Fanconi Anemia-like condition. CLINICAL REPORT: The proband was a 2.5 year-old girl with severe short stature, microcephaly, neurodevelopmental delay, congenital heart disease and dysmorphic features...
November 10, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29132419/success-of-anti-cd20-monoclonal-antibody-treatment-for-severe-autoimmune-hemolytic-anemia-caused-by-warm-reactive-immunoglobulin-a-immunoglobulin-g-and-immunoglobulin-m-autoantibodies-in-a-child-a-case-report
#7
Houda Ajmi, Sameh Mabrouk, Saida Hassayoun, Haifa Regaieg, Minyar Tfifha, Chemli Jalel, Hadef Skouri, Noura Zouari, Saoussan Abroug
BACKGROUND: Autoimmune hemolytic anemia is rare in children. First-line therapies for this disease consist of corticosteroids and intravenously administered immunoglobulin that are effective in most patients. However, a small proportion of cases (5 to 10%) is refractory to these therapies and may represent a medical emergency, especially when hemolysis is due to warm immunoglobulin M. Recently, reports of the use of rituximab in adult autoimmune diseases have shown promising results. In children, there are few studies on the use of rituximab in the treatment for autoimmune hemolytic anemia, especially on its long-term efficacy and adverse effects...
November 14, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29132164/mutational-spectrum-of-fanconi-anemia-associated-myeloid-neoplasms
#8
Mwe Mwe Chao, Kathrin Thomay, Gudrun Goehring, Marcin Wlodarski, Victor Pastor, Brigitte Schlegelberger, Detlev Schindler, Christian Peter Kratz, Charlotte Niemeyer
Individuals with Fanconi anemia (FA) have a high risk of developing myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML), yet the secondary somatic mutations lending to these malignancies remain to be further elucidated. We employed a next-generation sequencing myeloid neoplasia gene panel to determine the mutational spectrum of FA-related MDS/AML. Ten of 16 patients showed missense, nonsense, insertion or duplication mutations in 13 genes. In contrast to findings in MDS in the general population, mutations in genes involved in RNA splicing were rarely affected...
November 2017: Klinische Pädiatrie
https://www.readbyqxmd.com/read/29130008/a-rare-association-of-autoimmune-hemolytic-anemia-with-gastric-adenocarcinoma
#9
Kavita Agrawal, Flores Alfonso
An 80-year-old male presented with dyspnea on exertion for at least two months. He also complained of progressive dysphagia and weight loss of 35 pounds over the last eight months. Initial blood tests showed hemoglobin of 6.1 g/dl, reticulocytes count of 19.7%, total bilirubin of 3.2 mg/dl, lactate dehydrogenase of 600 U/L, and haptoglobin of less than 8 mg/dl, and direct Coombs test was positive for warm immunoglobulin G. The impression was autoimmune hemolytic anemia (AIHA). The evaluation of dysphagia with esophagogastroduodenoscopy revealed a single irregular 4 cm malignant appearing ulcerated mass at the incisura angularis of the stomach...
2017: Case Reports in Oncological Medicine
https://www.readbyqxmd.com/read/29129340/synchronous-colorectal-cancer-and-multiple-myeloma-with-chest-wall-involvement-is-this-a-coincidence
#10
Qiu-Li Li, Jin-An Ma, Hai-Peng Li, Ren-Bing Huang, Chun-Hong Hu, Xian-Ling Liu, Ya-Wen Gao, Gang-Hua Feng, Fang Wu
Multiple primary malignant neoplasms (MPMNs) are rare malignant neoplasms that simultaneously or successively occur in the same patient as 2 or more primary malignancies. Currently, an increasing number of cases are being reported. In general, MPMNs more commonly occur as 2 solid tumors or 2 hematological malignancies. Cases of MPMN that involve a solid tumor and a hematological malignancy are rare. Here, we report a case of synchronous colorectal cancer (CRC) and multiple myeloma (MM) with chest wall involvement...
September 25, 2017: Current Problems in Cancer
https://www.readbyqxmd.com/read/29123842/severe-sepsis-caused-by-capnocytophaga-canimorsus-complicated-by-thrombotic-microangiopathy-in-an-immunocompetent-patient
#11
Shota Maezawa, Daisuke Kudo, Keiichiro Asanuma, Daisuke Takekoshi, Ryuichiro Egashira, Shigeki Kushimoto
Case: A 61-year-old man with an unremarkable medical history was admitted with fever 7 days after being bitten by his dog. On day 3, he showed altered mental status, and laboratory data showed progressive hemolytic anemia, thrombocytopenia, hyperbilirubinemia, renal dysfunction, coagulopathy, and schistocytosis. Severe sepsis complicated with thrombotic microangiopathy caused by Capnocytophaga canimorsus was suspected. Outcome: Plasma exchange was applied to treat the thrombotic microangiopathy and resulted in platelet count increase and improved renal function, hyperbilirubinemia, and schistocytosis...
January 2017: Acute Medicine & Surgery
https://www.readbyqxmd.com/read/29121838/possible-trimethoprim-sulfamethoxazole-induced-hemolytic-anemia-a-case-report
#12
Montgomery F Williams, Emily P Doss, Maggie Montgomery
OBJECTIVE: To report a case of hemolytic anemia in a patient who received trimethoprim/sulfamethoxazole (TMP-SMX) for a urinary tract infection (UTI). SUMMARY: A 47-year-old woman recently diagnosed with uncomplicated UTI received 3 doses of TMP-SMX. She developed yellowing of the skin and eyes, lethargy, mild abdominal pain, and dry mucous membranes. Laboratory testing demonstrated significant anemia with red blood cells (RBCs) of 1.99, hemoglobin (Hgb) of 6.3 g/dL, and hematocrit (Hct) of 18...
December 2017: Journal of Pharmacy Practice
https://www.readbyqxmd.com/read/29119669/sinusitis-caused-by-exserohilum-rostratum-after-cord-blood-transplantation-for-myelodysplastic-syndrome-a-case-report-and-literature-review
#13
Sumiko Kohashi, Takaaki Toyama, Norisato Hashimoto, Masatoshi Sakurai, Jun Kato, Taku Kikuchi, Yuya Koda, Kayoko Sugita, Naoki Hasegawa, Kyoko Yarita, Katsuhiko Kamei, Shinichiro Okamoto, Takehiko Mori
Invasive fungal disease is a serious infectious complication of allogeneic hematopoietic stem cell transplantation (HSCT). Exserohilum rostratum is a species causing phaeohyphomycosis, which rarely causes invasive disease in humans. We treated a case of sinusitis caused by E. rostratum after cord blood transplantation (CBT). A 60-year-old man with myelodysplastic syndrome, who had a medical history of an operation to correct deviation of the nasal septum, developed sinusitis caused by E. rostratum under prolonged profound neutropenia after a second CBT because of the graft rejection of the first transplantation...
November 8, 2017: Transplant Infectious Disease: An Official Journal of the Transplantation Society
https://www.readbyqxmd.com/read/29119575/occurrence-of-hemolytic-reactions-on-the-same-day-as-immune-globulin-product-administrations-during-2008-to-2014
#14
Gayathri Sridhar, Bola F Ekezue, Hector S Izurieta, Richard A Forshee, Nandini Selvam, Paul D Mintz, Steven A Anderson, Mikhail D Menis
BACKGROUND: Hemolytic reactions (HRs) are rare serious adverse events after immune globulin (IG) use. Our large claims-based study evaluated occurrence of same-day hemolysis after administration of different IG products and potential risk factors, during the 2008 to 2014 study period. STUDY DESIGN AND METHODS: We conducted a retrospective cohort study using a large commercial administrative database. The study included individuals exposed to IG products as identified by procedure codes...
November 8, 2017: Transfusion
https://www.readbyqxmd.com/read/29119304/is-thrombocytosis-always-an-indicator-of-autosplenectomy-in-patients-with-systemic-lupus-erythematosus
#15
Döndü Üsküdar Cansu, Hava Üsküdar Teke, Ahmet Musmul, Cengiz Korkmaz
In systemic lupus erythematosus (SLE), the most commonly encountered finding related to platelets is thrombocytopenia whereas thrombocytosis is rarely reported. Our aim here was to reveal the type and the frequency of thrombocytosis in SLE patients along with its causes. Data of patients were evaluated retrospectively. Patients who had a platelet count of > 450,000/mm(3) (> 450 × 10(9)/L) in at least two subsequent counts and lasting more than 6 months during the follow-up were considered to have "persistent thrombocytosis"...
November 8, 2017: Rheumatology International
https://www.readbyqxmd.com/read/29116947/cerebrovascular-steal-phenomenon-and-electroconvulsive-therapy-a-case-report-and-review-of-the-literature
#16
Ana Hategan, Calvin H Hirsch
Electroconvulsive therapy (ECT) is a safe and effective treatment for major depressive disorder, but cerebrovascular and cardiovascular complications, although rare, remain the most concerning. This is particularly notable in those with preexisting cerebrovascular disease, which impacts dynamic cerebral autoregulation. In these patients, the increased blood flow to the seizing portions of the brain induced by ECT potentially can reduce cerebral blood flow to ischemic areas, possibly causing adverse neurological events...
November 8, 2017: Journal of ECT
https://www.readbyqxmd.com/read/29111186/plasmodium-falciparum-found-in-the-bone-marrow-of-a-child-in-manado-city-east-indonesia-a-case-report
#17
Suryadi N N Tatura, Stefanus Gunawan, Janno Bernadus, Sianne Sandjoto
In Indonesia, there are at least 1.3 million cases of malaria each year and Plasmodium falciparum appears to be the most common Plasmodium. The finding of Plasmodium is important for the diagnosis and management of malaria. This is a case of a 4-year-and-9-month-old male who lived in Manado, East Indonesia. He presented with a prolonged fever, was pale in appearance, and was easily fatigued over the last 3 weeks. Hepato-splenomegaly was found on the initial physical examination. Preliminary laboratory findings found pancytopenia and severe anemia...
October 2017: Asian Pacific Journal of Tropical Medicine
https://www.readbyqxmd.com/read/29107342/sweet-syndrome-in-patients-with-and-without-malignancy-a-retrospective-analysis-of-83-patients-from-a-tertiary-academic-referral-center
#18
Caroline A Nelson, Megan H Noe, Christine M McMahon, Asha Gowda, Benedict Wu, Hovik J Ashchyan, Alexander E Perl, William D James, Robert G Micheletti, Misha Rosenbach
BACKGROUND: Sweet syndrome is a neutrophilic dermatosis that may be categorized into classic, malignancy-associated, and drug-induced subtypes. Few studies have systematically analyzed this rare disorder. OBJECTIVE: To describe the clinicopathologic characteristics and treatment of Sweet syndrome and identify characteristics associated with concurrent malignancy. METHODS: We retrospectively reviewed patients with Sweet syndrome at the University of Pennsylvania from 2005 to 2015...
October 26, 2017: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/29104118/clinical-trial-conduct-in-special-populations-and-developing-regions-an-overview-of-the-dove-study-in-pediatric-patients-with-sickle-cell-disease
#19
Stephen G Reams, Linda Messana, Patricia B Brown, Kevin Nanry, Alexandria E Gunnell
Clinical trials conducted in unique patient populations or individuals with rare diseases are typically hampered by limitations in availability of qualified patients, requiring sponsors to broaden their global outreach to achieve enrollment. Engaging clinical study centers in developing regions may offer access to a substantially larger patient pool. However, they provide a unique set of challenges based on local cultures and requirements. The DOVE study (Determining effects Of platelet inhibition on Vaso-occlusive Events) was a clinical trial of prasugrel hydrochloride (prasugrel) in pediatric patients (aged 2 to <18years) with sickle cell anemia...
November 2, 2017: Contemporary Clinical Trials
https://www.readbyqxmd.com/read/29101207/the-ferroportin-disease-pathogenesis-diagnosis-and-treatment
#20
Antonello Pietrangelo
The Ferroportin Disease is an autosomal dominant hereditary iron loading disorder associated with heterozygote mutations of the ferroportin-1 (FPN) gene. It represents one of commonest cause of genetic hyperferritinemia, regardless of ethnicity. FPN1 transfers iron from the intestine, macrophages and placenta into the bloodstream. In the ferroportin disease, loss-of-function mutations of FPN1 limit but do not impair iron-export in enterocytes, but severely affects iron-transfer in macrophages. This leads to progressive and preferential iron trapping in tissue macrophages, reduced iron release to serum transferrin (i...
November 3, 2017: Haematologica
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