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Rare anemias

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https://www.readbyqxmd.com/read/28816965/blue-rubber-bleb-nevus-syndrome-our-experience-and-new-endoscopic-management
#1
Wenguo Chen, Hongtan Chen, Guodong Shan, Ming Yang, Fengling Hu, Qi Li, Lihua Chen, Guoqiang Xu
The aim of our study is to enhance the awareness of blue rubber bleb nevus syndrome (BRBNS) through the patients in our hospital and introduced a new measure of endoscopic intervention.A retrospective review of 5 patients, who were diagnosed as BRBNS in our hospital from January 2013 to January 2017, was conducted. Data were collected with regard to demographics, clinical presentation, endoscopic and imaging findings, management, and follow-up data.In total of 5 patients, the mean age was 28.8 years, range 16 to 44 years (male/female, 1/4) with the average initial age of onset 15...
August 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28815406/successful-management-of-a-hydropic-fetus-with-severe-anemia-and-thrombocytopenia-caused-by-anti-cd36-antibody
#2
Xiuzhang Xu, Lin Li, Wenjie Xia, Haoqiang Ding, Dawei Chen, Jing Liu, Jing Deng, Yangkai Chen, Zhiming He, Jiali Wang, Yuan Shao, Sentot Santoso, Xin Ye, Qun Fang
Cases of CD36 deficiency are not rare in Asian populations, foetal and neonatal alloimmune thrombocytopenia (FNAIT) caused by anti-CD36 isoantibodies appears more frequent than other HPA alloantibodies. However, little is known about the treatment of anti-CD36 mediated FNAIT in this region. A Chinese male foetus, whose mother had a history of multiple intrauterine foetal demise and/or hydrops, was diagnosed with severe FNAIT at 27 weeks of gestational age. Immunological analysis revealed total absence of CD36 on platelets and monocytes from mother, caused by a 329-330delAC mutation of the CD36 gene...
August 16, 2017: International Journal of Hematology
https://www.readbyqxmd.com/read/28811946/are-all-mutations-the-same-a-rare-case-report-of-coexisting-mutually-exclusive-kras-and-braf-mutations-in-a-patient-with-metastatic-colon-adenocarcinoma
#3
Anusha Vittal, Akshay Middinti, Anup Kasi Loknath Kumar
29-year-old Hispanic woman presented to the clinic with complaints of abdominal pain, nausea, fatigue, and constipation. Laboratory tests indicated the presence of iron deficiency anemia and transaminitis. Imaging evaluation revealed marked hepatomegaly with multiple hepatic metastases and pelvic lymphadenopathy. Biopsy of the hepatic lesions showed adenocarcinoma positive for pan-cytokeratin, CMA5.2, villin, and CDX2. She was positive for tumor markers CA 19-9, CA-125, and CEA. Upon further evaluation, she was found to have colorectal cancer positive for KRAS and BRAF mutations...
2017: Case Reports in Oncological Medicine
https://www.readbyqxmd.com/read/28811809/peppered-and-rare-gastric-and-duodenal-pseudomelanosis-a-case-series
#4
Sami Samiullah, Hadi Bhurgri, Arooj Babar, Fatima Samad, Moaz M Choudhary, Michael Demyen
Upper Gastrointestinal (GI) pseudomelanosis is an uncommon entity characterized by endoscopic visualization of speckled dark mucosal pigmentation. While described in the rectum and colon, 'melanosis' or more aptly 'pseudomelanosis' is rare in the duodenum and exceedingly rare in the stomach. Five cases of pseudomelanosis were encountered at our department. Four females and one male were diagnosed, with a mean age of 70 years. All patients exhibited duodenal pseudomelanosis, with one demonstrating gastric antral pseudomelanosis as well...
May 2017: Pakistan Journal of Medical Sciences Quarterly
https://www.readbyqxmd.com/read/28811338/emerging-functions-of-the-fanconi-anemia-pathway-at-a-glance
#5
REVIEW
Rhea Sumpter, Beth Levine
Fanconi anemia (FA) is a rare disease, in which homozygous or compound heterozygous inactivating mutations in any of 21 genes lead to genomic instability, early-onset bone marrow failure and increased cancer risk. The FA pathway is essential for DNA damage response (DDR) to DNA interstrand crosslinks. However, proteins of the FA pathway have additional cytoprotective functions that may be independent of DDR. We have shown that many FA proteins participate in the selective autophagy pathway that is required for the destruction of unwanted intracellular constituents...
August 15, 2017: Journal of Cell Science
https://www.readbyqxmd.com/read/28806254/rare-ileal-ewing-sarcoma-primitive-neuroectodermal-tumor-on-18f-fdg-pet-ct
#6
Pan Yu, Fei Xiaochun, Lv Jing, Zhang Yifan
A 24-year-old woman who had melena, dizziness, and fatigue and looked pale for 2 months was confirmed to have a microcytic hypochromic anemia in the local hospital. It was further revealed that the patient had splenomegaly and a small intestinal lump, and she was then referred to our hospital. The enhanced CT showed an ileal lesion with enhancement, which showed an increased F-FDG activity in further PET/CT scanning. Lymphoma was therefore suspected, and an uncomplicated surgical resection of the ileal lesion was then performed...
August 12, 2017: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/28806241/fdg-pet-ct-in-primary-splenic-angiosarcoma-with-diffuse-involvement-of-the-spleen
#7
Qian Zhao, Aisheng Dong, Yang Wang, Tianlin He, Changjing Zuo
Primary splenic angiosarcoma is rare. A 44-year-old man presented with abdominal distension and malaise for 7 months. Laboratory tests showed anemia. Abdominal ultrasound showed enlargement of the spleen with multiple hypoechoic nodules. These nodules showed progressive enhancement on dynamic enhanced CT. Lymphoma was suspected. FDG PET/CT showed increased nonuniform FDG uptake with SUVmax of 11.6 of the entire spleen. Laparoscopic splenectomy was performed. The pathologic findings were consisted with angiosarcoma with replacement of the spleen...
August 12, 2017: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/28798774/multiple-osteolytic-lesions-causing-hypercalcemia-a-rare-presentation-of-acute-lymphoblastic-leukemia
#8
Khalid Mahmood, Muhammad Ubaid, Syeda Taliya Rizvi
Acute lymphoblastic leukemia is characterized by unchecked proliferation of malignant lymphoblasts which replaces the normal bone marrow culminating in anemia due to red blood cells inadequacy as well as in easy bruising/bleeding secondary to insufficient platelets production. Even the white blood cells which are produced excessively are immature and abnormal. ALL is the most common hematological malignancy in children. Most commonly, patients present with lymphadenopathy, recurrent infections, bleeding, fatigue, and bone pains...
2017: Case Reports in Medicine
https://www.readbyqxmd.com/read/28796996/call-for-caution-neonatal-portal-vein-thrombosis-following-enbucrilate-embolization-of-placental-chorioangioma
#9
Hian Yan Voon, Rafaie Amin, Juan Loong Kok, Kia Sing Tan
We illustrate a case of giant placental chorioangioma presenting at 20 weeks of gestation. Subsequent monitoring revealed enlargement of the lesion, associated with fetal anemia and cardiac failure, prompting in utero intervention. Amnioreduction followed by percutaneous embolization of the tumour with enbucrilate:Lipiodol Ultra-Fluid™ at a dilution of 1:5 was successfully performed. No repeat intervention or additional supportive measures were required throughout pregnancy and the baby was delivered at 36 weeks of gestation, following spontaneous labour...
August 11, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28796036/case-report-of-a-pair-of-siblings-with-cryptogenic-multifocal-ulcerating-stenosing-enteritis-a-rare-disease-easily-to-be-misdiagnosed-as-crohn-disease
#10
Yu Zhang, Lingjie Huang, Rongbei Liu, Mengyu Wang, Zhinong Jiang, Wei Zhou, Qian Cao
RATIONALE: The rare disease cryptogenic multifocal ulcerous stenosing enteritis (CMUSE) is characterized by multiple and recurring small intestinal ulcers with stenosis of unknown causes. In clinic, it is difficult to be differentiated from the inflammatory bowel disease, especially the Crohn disease. PATIENT CONCERNS: Here we report a pair of siblings who suffered from long-time anemia and abdominal pain and misdiagnosed with inflammatory bowel disease (IBD) for many years...
August 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28791910/a-novel-31-1%C3%A2-kb-%C3%AE-thalassemia-deletion-mex3-found-in-a-mexican-family
#11
Víctor M Rentería-López, Francisco J Perea-Díaz, Lourdes C Rizo-delaTorre, Josefina Y Sánchez-López, Bertha Ibarra-Cortés
α-Thalassemia (α-thal), a genetic disease characterized by microcytosis, hypochromia and anemia, is predominantly caused by deletions of the α-globin genes, HBA2 and HBA1. In this study, we describe a novel 31.1 kb α-thal deletion, - -(MEX3) (NC_000016.10: g.151479_182582del), observed in a Mexican family, probably originated from non homologous recombination between two Alu sequences; the 5' Alu element has been involved in at least two other α-thal deletions [- -(FIL) (NG_000006.1: g.11684_43534del) and - -(KOL)] and possesses a core homologous sequence next to the - -(MEX3) breakpoint...
August 9, 2017: Hemoglobin
https://www.readbyqxmd.com/read/28791286/autoimmune-thrombotic-thrombocytopenic-purpura-two-rare-cases-associated-with-juvenile-idiopathic-arthritis-and-multiple-sclerosis
#12
Despoina Dimopoulou, Athina Dimosiari, Eudokia Mandala, Theodoros Dimitroulas, Alaxandros Garyfallos
Secondary thrombotic microangiopathies are associated with several underlying conditions, with most of them being resolved after the treatment of background disease. Thrombotic thrombocytopenic purpura (TTP) is a rare microangiopathy presenting with anemia, thrombocytopenia, and neurological deficits, occurring most often in various autoimmune diseases due to inhibition of ADAMTS13 by autoantibodies, as well as in pregnant women with or without an autoimmune substrate. In this article, we report two newly diagnosed TTP cases, who have not been published so far...
2017: Frontiers in Medicine
https://www.readbyqxmd.com/read/28789675/life-threatening-subdural-hematoma-after-aortic-valve-replacement-in-a-patient-with-heyde-syndrome-a-case-report
#13
Tetsuro Uchida, Azumi Hamasaki, Eiichi Ohba, Atsushi Yamashita, Jun Hayashi, Mitsuaki Sadahiro
BACKGROUND: Heyde syndrome is known as a triad of calcific aortic stenosis, anemia due to gastrointestinal bleeding from angiodysplasia, and acquired type 2A von Willebrand disease. This acquired hemorrhagic disorder is characterized by the loss of the large von Willebrand factor multimers due to the shear stress across the diseased aortic valve. The most frequently observed type of bleeding in these patients is mucosal or skin bleeding, such as epistaxis, followed by gastrointestinal bleeding...
August 8, 2017: Journal of Cardiothoracic Surgery
https://www.readbyqxmd.com/read/28783522/fatal-liver-gas-gangrene-after-biliary-surgery
#14
Yui Miyata, Hiroyuki Kashiwagi, Kazuya Koizumi, Jun Kawachi, Madoka Kudo, Shinichi Teshima, Naoko Isogai, Katsunori Miyake, Rai Shimoyama, Ryota Fukai, Hidemitsu Ogino
INTRODUCTION: Liver gas gangrene is a rare condition with a highly mortality rate. It is mostly associated with host factors, such as malignancy and immunosuppression. PRESENTATION OF CASE: A 57-year-old female was admitted to our hospital with abnormalities of her serum hepato-biliary enzymes. She had a history of hypertension, diabetes mellitus, cerebral infarction, and chronic renal failure. She was diagnosed with bile duct cancer of the liver hilum and a left hepatectomy was carried out, with extrahepatic bile duct resection...
July 28, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28780309/clinical-and-microbiological-characteristics-of-pantoea-agglomerans-infection-in-children
#15
Ayşe Büyükcam, Özlem Tuncer, Deniz Gür, Banu Sancak, Mehmet Ceyhan, Ali Bülent Cengiz, Ateş Kara
Pantoea agglomerans is an environmental Gram-negative bacterium that rarely is responsible for the infections in humans but it is often a causative factor of a number of occupational diseases. This study evaluated the clinical and microbiological characteristics and pathogenicity of P. agglomerans in children. We retrospectively reviewed microbiological test results for all children (1 month old to 18 years old) who were admitted to our pediatric hospital between January 2000 to June 2015 and had positive clinical specimen cultures for P...
August 2, 2017: Journal of Infection and Public Health
https://www.readbyqxmd.com/read/28778076/modulation-of-the-fanconi-anemia-pathway-via-chemically-induced-changes-in-chromatin-structure
#16
David A Vierra, Jada L Garzon, Meghan A Rego, Morganne M Adroved, Maurizio Mauro, Niall G Howlett
Fanconi anemia (FA) is a rare disease characterized by congenital defects, bone marrow failure, and atypically early-onset cancers. The FA proteins function cooperatively to repair DNA interstrand crosslinks. A major step in the activation of the pathway is the monoubiquitination of the FANCD2 and FANCI proteins, and their recruitment to chromatin-associated nuclear foci. The regulation and function of FANCD2 and FANCI, however, is poorly understood. In addition, how chromatin state impacts pathway activation is also unknown...
July 22, 2017: Oncotarget
https://www.readbyqxmd.com/read/28774729/-thrombotic-microangiopathy-and-cancer
#17
Rania Kheder El-Fekih, Clément Deltombe, Hassan Izzedine
Thrombotic microangiopathy (TMA) is a group of disorders characterized by mechanical hemolytic anemia with thrombocytopenia and an ischemic organic lesion of variable and potentially fatal importance affecting mostly the kidneys and the brain with histologically a disseminated and occlusive microvasculopathy. The incidence of TMA represents 15% of acute kidney failure in oncological setting, largely due to the introduction of anti-angiogenic agents over the past decade. It may be more rarely related to cancer itself...
July 31, 2017: Néphrologie & Thérapeutique
https://www.readbyqxmd.com/read/28772256/non-syndromic-childhood-onset-congenital-sideroblastic-anemia-a-report-of-13-patients-identified-with-an-alas2-or-slc25a38-mutation
#18
Marie-Amelyne Le Rouzic, Cyrielle Fouquet, Thierry Leblanc, Mohamed Touati, Fanny Fouyssac, Christiane Vermylen, Nadja Jäkel, Jean-François Guichard, Karim Maloum, Fabienne Toutain, Patrick Lutz, Yves Perel, Hana Manceau, Caroline Kannengiesser, Jean-Pierre Vannier
The most frequent germline mutations responsible for non syndromic congenital sideroblastic anemia are identified in ALAS2 and SLC25A38 genes. Iron overload is a key issue and optimal chelation therapy should be used to limit its adverse effects on the development of children. Our multicentre retrospective descriptive study compared the strategies for diagnosis and management of congenital sideroblastic anemia during the follow-up of six patients with an ALAS2 mutation and seven patients with an SLC25A38 mutation...
July 26, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28770130/an-extremely-premature-neonate-with-severe-anemia
#19
Swosti Joshi, Ivy Mulinge, Medha Kamat
Spleen rupture in an extremely premature newborn is very rare event. High index of suspicion is required to make timely diagnosis and thereafter appropriate management. We present a rare case of an extremely premature, extremely low birthweight newborn who presented with severe anemia secondary to splenic rupture. It was managed conservatively without splenectomy resulting in complete resolution of symptoms. Although non-operative management of pediatric splenic injuries is now recognized as the treatment of choice, there is very little experience in premature newborns...
April 2017: Journal of Neonatal Surgery
https://www.readbyqxmd.com/read/28767598/giant-liver-hemangioma-with-adult-kasabach-merritt-syndrome-case-report-and-literature-review
#20
Xiaolei Liu, Zhiying Yang, Haidong Tan, Li Xu, Yongliang Sun, Shuang Si, Liguo Liu, Wenying Zhou, Jia Huang
RATIONALE: Adult Kasabach-Merritt syndrome associated with giant liver hemangioma is rare; to date, most reports have been single-case reports, and no multi-case reports or literature reviews are available. DIAGNOSES: We conducted a retrospective analysis of 5 cases of adult Kasabach-Merritt syndrome associated with giant liver hemangioma treated at our hospital between 2011 and 2016. All 5 patients had varying severities of leukopenia, anemia, thrombocytopenia, prolonged prothrombin time, and hypofibrinogenemia...
August 2017: Medicine (Baltimore)
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