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https://www.readbyqxmd.com/read/28239468/immunotherapy-associated-autoimmune-hemolytic-anemia
#1
Uqba Khan, Farman Ali, Muhammad Siddique Khurram, Awais Zaka, Tarik Hadid
BACKGROUND: Immunotherapy has been widely used in the treatment of several solid and hematologic malignancies. Checkpoint inhibitors have been the forefront of cancer immunotherapy in recent years. Cytotoxic T-lymphocyte-associated protein 4 (CTLA-4) and programmed cell death 1 (PD-1) pathway are the prototypic checkpoint targets for immunotherapy. When combined, CTLA-4 and PD-1 checkpoint inhibitors work synergistically, but with increased probability of toxicity. The following case represents an unusual adverse effect of combined treatment with ipilimumab and nivolumab used for treatment of metastatic melanoma...
2017: Journal for Immunotherapy of Cancer
https://www.readbyqxmd.com/read/28224035/colonic-intussusception-in-descending-colon-an-unusual-presentation-of-colon-lipoma
#2
Reza Bagherzadeh Saba, Amir Sadeghi, Neda Rad, Mohammad Taghi Safari, Farnoush Barzegar
Lipomas of the colon are relatively rare benign soft tissue tumors derived from mature adipocytes of mesenchymatic origin. During colonoscopy, surgery or autopsy they are generally discovered incidentally. Most cases are asymptomatic, with a small tumor size, and do not need any special treatment. However, in the cases with larger in size of tumor some symptoms such as anemia, abdominal pain, constipation, diarrhea, bleeding, or intussusception may be presented. We reported a 47-year-old woman with colonic intussusception in the descending colon caused by colonic lipoma and diagnosed after surgical exploration for obstructive colonic mass...
December 2016: Gastroenterology and Hepatology From Bed to Bench
https://www.readbyqxmd.com/read/28221210/cutaneous-emboli-of-invasive-basidiomycosis-in-a-child-with-aplastic-anemia
#3
Desmond Shi-Wei Lim, Poh-Lin Tan, Roland Jureen, Kong-Bing Tan
Invasive fungal diseases are a significant cause of mortality among the immunocompromised. This report documents an unusual case of disseminated fungal infection in a child with severe aplastic anemia. The offending fungus, a Basidiomycete, is rarely known to cause human infections. The patient presented acutely with multiple purpuric skin lesions in various parts of the body. The skin biopsy revealed septated fungal hyphae embolized within small dermal blood vessels. Molecular sequencing indicated Earliella scabrosa as the likely organism...
March 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/28220469/ascending-colon-cancer-with-synchronous-external-iliac-and-inguinal-lymph-node-metastases-but-without-regional-lymph-node-metastasis-a-case-report-and-brief-literature-review
#4
Yuki Kitano, Masafumi Kuramoto, Toshiro Masuda, Daisuke Kuroda, Kenichiro Yamamoto, Satoshi Ikeshima, Ken-Ichi Iyama, Shinya Shimada, Hideo Baba
Lymph node metastasis to the iliac or inguinal region of colon cancer is extremely rare. We experienced a case of ascending colon cancer with synchronous isolated right external iliac and inguinal lymph node metastases but without any regional lymph node metastasis. An 83-year-old woman was admitted to our hospital due to anemia. Colonoscopy and computed tomography revealed an ascending colon cancer and also right external iliac and inguinal lymph node swelling. Further examination by F-deoxyglucose positron emission tomography strongly suggested that these lymph nodes were metastatic...
December 2017: Surgical Case Reports
https://www.readbyqxmd.com/read/28216942/isolated-bone-marrow-metastasis-of-testicular-tumor-a-rare-cause-of-thrombocytopenia
#5
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/28212262/molecular-cytogenetic-approach-to-characterize-novel-and-cryptic-chromosome-abnormalities-in-childhood-myeloid-malignances-of-fanconi-anemia
#6
Maria L R Borges, Roberto R Capela de Matos, Bethânia D A Silva Amaral, Eliane M Soares-Ventura, Edinalva P Leite, Mariluze O D Silva, Maria T M Nogueira Cornélio, Maria L M Silva, Thomas Liehr, Terezinha D J Marques-Salles
Myeloid malignancies can be either primary or secondary, whether or not a specific cause can be determined. Fanconi anemia (FA), a rare constitutional bone marrow failure, usually presents an increased possibility of clonal evolution, due to the increase in chromosomal instability, TP53 activation, and cell death. The evolution of FA may include aplastic anemia by the progressive failure of the bone marrow and myelod neoplasias, such as acute myeloid leukemia and myelodysplastic syndrome. Chromosome abnormalities, particularly of chromosomes, 1, 3, and 7, during the aplastic phase of the disease are predictive of evolution to acute myeloid leukemia/myelodysplastic syndrome...
March 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28211282/signet-ring-cell-carcinoma-of-the-jejunum-an-uncommon-finding-within-the-reach-of-capsule-endoscopy
#7
José Francisco Juanmartiñena, Marta Montes, Ignacio Fernández-Urién
An 80 year-old female presented with ductal breast carcinoma (stage II) three years ago, complained of asthenia and iron-deficiency anemia. No diagnosis was obtained after conventional endoscopy and iron supplements were indicated. Ten months later visible digestive hemorrhage was presented. Upper and lower endoscopy was repeated but non-diagnosis was obtained. Thus, video capsule endoscopy was indicated identifying a stenotic lesion arising in the mucosa of distal jejunum. Histopathological examination revealed a poorly mucinous differentiated signet-ring cell adenocarcinoma with an intense peri-tumoral lymphoid (Crohn´s-like lymphoid reaction) and lympho-vascular infiltration with no nodal metastases (pT3N0;7ª edition TNM classification)...
February 2017: Revista Española de Enfermedades Digestivas
https://www.readbyqxmd.com/read/28210839/thrombotic-microangiopathy-caused-by-methionine-synthase-deficiency-diagnosis-and-treatment-pitfalls
#8
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/28210642/high-output-heart-failure-contributing-to-recurrent-epistaxis-kiesselbach-area-syndrome-in-a-patient-with-hereditary-hemorrhagic-telangiectasia
#9
Venugopal Brijmohan Bhattad, Jennifer N Bowman, Hemang B Panchal, Timir K Paul
Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a rare genetic blood disorder that leads to abnormal bleeding due to absent capillaries and multiple abnormal blood vessels known as arteriovenous malformations. A feature of HHT is high-output heart failure due to multiple arteriovenous malformations. High-output heart failure can lead to recurrent epistaxis Kiesselbach area syndrome (REKAS), further exacerbating heart failure through increased blood loss and resultant anemia...
January 2017: Journal of Investigative Medicine High Impact Case Reports
https://www.readbyqxmd.com/read/28205048/mild-orotic-aciduria-in-umps-heterozygotes-a-metabolic-finding-without-clinical-consequences
#10
Saskia B Wortmann, Margaret A Chen, Roberto Colombo, Alessandro Pontoglio, Bader Alhaddad, Lorenzo D Botto, Tatiana Yuzyuk, Curtis R Coughlin, Maria Descartes, Stephanie Grűnewald, Bruno Maranda, Philippa B Mills, James Pitt, Catherine Potente, Richard Rodenburg, Leo A J Kluijtmans, Srirangan Sampath, Emil F Pai, Ron A Wevers, George E Tiller
BACKGROUND: Elevated urinary excretion of orotic acid is associated with treatable disorders of the urea cycle and pyrimidine metabolism. Establishing the correct and timely diagnosis in a patient with orotic aciduria is key to effective treatment. Uridine monophosphate synthase is involved in de novo pyrimidine synthesis. Uridine monophosphate synthase deficiency (or hereditary orotic aciduria), due to biallelic mutations in UMPS, is a rare condition presenting with megaloblastic anemia in the first months of life...
February 15, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28202115/-clinical-features-and-pathogenic-gene-detection-of-diamond-blackfan-anemia
#11
Xu He, Zhi-Liang Xu
OBJECTIVE: To investigate the clinical features of Diamond-Blackfan anemia (DBA) and related pathogenic genes. METHODS: A retrospective analysis was performed for the clinical data of two children with DBA, and related literature was reviewed. RESULTS: The two children with DBA (2-3 months old) manifested with severe normochromic normocytic anemia, decreased reticulocyte count, and increased serum iron and serum ferritin. Normal white blood cell and platelet counts were noted in the two patients...
February 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28196424/pyogenic-granuloma-in-the-jejunum-successfully-removed-by-single-balloon-enteroscopy
#12
Cristina Romero Mascarell, Juan Carlos García Pagán, Isis Karina Araujo, Josep Llach, Begoña González-Suárez
Pyogenic granuloma is a non-infectious and non-granulomatous lesion. Its location in the small bowel is very rare. We present a 46 year-old woman with a chronic liver disorder that had a severe chronic anemia with occult blood losses. Upper endoscopy and colonoscopy were normal. A small bowel capsule endoscopy showed a pyogenic granuloma in jejunum that was resected endoscopically with single balloon enteroscopy with no major complications. The patient recovered from anemia and six months latter capsule endoscopy did not show lesions...
February 15, 2017: Revista Española de Enfermedades Digestivas
https://www.readbyqxmd.com/read/28190866/splenic-marginal-zone-lymphoma-uncovered-after-a-10-year-follow-up-as-anemia-of-unknown-cause
#13
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/28164000/spinal-dural-arteriovenous-fistula-and-cecal-arteriovenous-malformation-in-a-boy
#14
Vimlesh Soni, Pankaj C Vaidya, Jitendra Kumar Sahu, Mukesh Yadav, Pratibha Singhi
Concurrent spinal dural arteriovenous fistula (AVF) and cecal arteriovenous malformation (AVM) are very rare. A 6-year old boy presented with lower limb paresis after trauma. On imaging work-up spinal dural AVF was found. It was managed with endovascular glue embolization. After two years, the boy presented with severe anemia and occult gastrointestinal tract (GIT) bleed. Cecal AVM was diagnosed and managed with embolization.
January 2017: APSP Journal of Case Reports
https://www.readbyqxmd.com/read/28160324/molecular-diagnosis-of-%C3%AE-thalassemia-in-a-multi-ethnic-population
#15
Oded Gilad, Orna Steinberg Shemer, Michal Nevo, Orly Dgany, Tanya Krasnov, Sharon Noy-Lotan, Ron Rabinowicz, Nofar Amitai, Shifra Ben-Dor, Isaac Yaniv, Joanne Yacobovich, Hannah Tamary
OBJECTIVE: α-Thalassemia, one of the most common genetic diseases, is caused by deletions or point mutations affecting one to four α-globin genes. Molecular diagnosis is important to prevent the most severe forms of the disease. However, the diagnosis of α-thalassemia is complex due to a high variability of the genetic defects involved, with over 250 described mutations. We summarize herein the findings of genetic analyses of DNA samples referred to our laboratory for the molecular diagnosis of α-thalassemia, along with a detailed clinical description...
February 3, 2017: European Journal of Haematology
https://www.readbyqxmd.com/read/28154281/fulminant-laryngeal-tracheobronchial-pulmonary-aspergillosis-a-rare-and-fatal-complication-in-allogeneic-hematopoietic-stem-cell-transplantation-recipients
#16
Tao Tao, Ying-Hui Zhang, Sheng-Li Xue, De-Pei Wu, Feng Chen
A 23-year-old man who had previously undergone allogeneic hematopoietic stem cell transplantation (allo-HSCT) for severe aplastic anemia was diagnosed with invasive laryngeal-tracheobronchial-pulmonary aspergillosis after presenting with a persistent dry cough at six months post-transplantation based on the findings of laryngoscopy and fiberoptic bronchoscopy. A fiberoptic bronchoscope was used to remove the obstructive material from the patient's airway and posaconazole plus caspofungin were administered to successfully to treat the patient...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28154186/structural-analysis-reveals-the-deleterious-effects-of-telomerase-mutations-in-telomerase-associated-bone-marrow-failure-syndromes
#17
Hunter Hoffman, Cory Rice, Emmanuel Skordalakes
Naturally occurring mutations in the ribonucleoprotein reverse transcriptase, telomerase, are associated with the bone marrow failure syndromes dyskeratosis congenita (DKC), aplastic anemia (AA), and idiopathic pulmonary fibrosis (IPF). However, the mechanism by which these mutations impact telomerase function remains unknown. Here we present the structure of the human telomerase c-terminal extension (CTE or thumb domain) determined by the method of single-wavelength anomalous diffraction (SAD) to 2.31 A resolution...
February 1, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28151917/chronic-diarrhea-associated-with-high-serum-level-of-immunoglobulin-a-and-diffuse-infiltration-of-plasma-cell-in-small-intestine-a-case-report
#18
Junwen Yang, Shuijiao Chen, Linlin Chen, Miao Ouyang, Fujun Li
RATIONALE: Chronic diarrhea in adult patients due to various causes is very common in clinic, but patient suffering with mal-absorption due to immunoproliferative small intestinal disease was rarely reported in China. PATIENT CONCERNS AND DIAGNOSES: A 35-year-old female presented with more than three years history of chronic diarrhea, rickets, high serum value of immunoglobulin A protein, and anemia. Bone marrow aspiration suggested that the patient was in a sideropenic and megalobastic anemia stage...
February 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28151891/retrospective-study-of-intravascular-large-b-cell-lymphoma-cases-diagnosed-in-quebec-a-retrospective-study-of-29-case-reports
#19
Vanessa Brunet, Sofia Marouan, Jean-Pierre Routy, Mohamed Amin Hashem, Vincent Bernier, Raynald Simard, Tony Petrella, Louis Lamarre, Gilles Théorêt, Christian Carrier, Hans Knecht, Isabelle Fleury, Michel Pavic
INTRODUCTION: Intravascular large B-cell lymphoma (IVL) is an extremely rare malignancy, mainly studied through European and Asian series. Due to the low incidence of this condition, our understanding of the clinical presentation as well as the management of IVL relies on a limited number of patients.We report the largest North American study to date on IVL with 29 cases from Quebec hospital diagnosed between 1990 and 2016. The aim of our study is to describe the clinical presentations, diagnostic and staging procedures, therapeutic management and clinical outcomes of IVL patients in our population and compare the disease phenotype to European and Asian series reported...
February 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28139070/pediatric-laryngeal-carcinoma-in-a-heterozygous-carrier-of-fanconi-anemia
#20
A M D'Souza, J Mark, M Demarcantonio, D Leino, R Sisson, J I Geller
A case of invasive, keratinizing squamous cell carcinoma of the larynx in an 8-year-old female treated with laryngectomy is presented. Perinatal exposure to human papilloma virus and constitutional heterozygosity for a FANCC mutation were identified, though FANCC heterozygosity is not known to be cancer predisposing. An additional tumor-associated mutation in NOTCH1 was also identified potentially contributing to oncogenesis. This case illustrates an exceedingly rare type of cancer in the pediatric population and discusses diagnostic workup, evaluation of risk factors for head and neck cancer, and treatment options...
January 31, 2017: Pediatric Blood & Cancer
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