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Rare anemias

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https://www.readbyqxmd.com/read/29779117/how-common-is-balkan-endemic-nephropathy-among-immigrants-in-endemic-regions
#1
Ljubica Đukanović, Maja Račić, Ivko Marić, Zlatko Maksimović, Jelena Simić, Jela Aleksić, Sanja Stanković, Vesna Pejović, Višnja Ležaić
PURPOSE: In the early 1970s, a number of authors described the development of Balkan endemic nephropathy (BEN) in immigrants in endemic regions. The aim of this study was to examine whether immigrants in endemic regions are suffering from BEN today. METHODS: The study involved 193 residents of two endemic regions divided into three groups: two groups of native residents-(1) members of BEN families, (2) members of non-BEN families, and (3) immigrants, who had moved from non-affected settlements to the endemic regions of Kolubara (38 years ago) or Semberia (20 years ago)...
May 19, 2018: International Urology and Nephrology
https://www.readbyqxmd.com/read/29778411/a-probable-primary-malignant-bone-tumor-in-a-pre-columbian-human-humerus-from-cerro-brujo-bocas-del-toro-panam%C3%A3
#2
Nicole E Smith-Guzmán, Jeffrey A Toretsky, Jason Tsai, Richard G Cooke
We present a rare case of primary bone cancer principally affecting the right humerus of a skeleton from the pre-Columbian site of Cerro Brujo (1265-1380 CE) in Bocas del Toro, on the Caribbean coast of Panamá, excavated in the early 1970s. The humerus contains a dense, calcified sclerotic mass with associated lytic lesions localized around the midshaft of the diaphysis. Evidence of systemic inflammation and anemia, likely caused by the cancer, are visible in the form of severe porotic hyperostosis of the cranial vault and bilateral periosteal reactions in the tibiae...
May 26, 2017: International Journal of Paleopathology
https://www.readbyqxmd.com/read/29777547/tacrolimus-induced-asymptomatic-thrombotic-microangiopathy-diagnosed-by-laboratory-tests-in-pig-to-rhesus-corneal-xenotransplantation-a-case-report
#3
Jong-Min Kim, Jaeyoung Kim, Se-Hyun Choi, Jun-Seop Shin, Byoung-Hoon Min, Won Young Jeong, Ga-Eul Lee, Min-Sun Kim, Seeun Kwon, Mee Kum Kim, Chung-Gyu Park
Tacrolimus-associated thrombotic microangiopathy (TA-TMA) is a rare complication. TA-TMA is characterized by microangiopathic hemolytic anemia, thrombocytopenia, and organ damage due to thrombus. We report asymptomatic TA-TMA diagnosed by laboratory tests in pig-to-rhesus corneal xenotransplantation. Corneal transplantation had been conducted from a wild-type SNU miniature pig to a rhesus macaque. The veterinary records were retrospectively reviewed in this case. The immunosuppressive regimen consisted of rituximab, basiliximab, and IVIg as inductive therapies, and steroids with tacrolimus (0...
May 18, 2018: Xenotransplantation
https://www.readbyqxmd.com/read/29771863/upshaw-schulman-syndrome-with-c-2728c-t-mutation-in-adamts13-gene
#4
Shahzadi Resham, Zehra Fadoo, Bushra Moiz
Congenital thrombotic thrombocytopenic purpura is a rare autosomal recessive disorder presenting with hemolytic anemia, thrombocytopenia, micro vascular thrombosis, and end organ damage. Here, we present a case of a 7-year-old girl having recurrent neonatal hemolysis, developmental delay, frequent seizures, and thrombocytopenia. Characteristic clinical picture and gene sequencing of a disintegrin and metalloproteinase with thrombospondin motifs 13 confirmed the diagnosis of Upshaw-Schulman syndrome. She was treated successfully with plasma infusion...
May 16, 2018: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29767893/-hemolytic-anemia-in-cancer
#5
Maria Anastasiou, Yves Chalandon, Sandro Anchisi
Hemolysis (from the Greek word: hemolysis: hema = blood + lysis = liberation) is a medical term that describes red blood cell's destruction by mechanisms of lysis of the membrane. An hemolytic anemia occurs when excessive destruction of red blood cells overwhelms bone marrow's capacity of regeneration. Although anemia is frequently associated with an oncologic disease, hemolytic anemia is rarely diagnosed in oncologic patients. Consequently, a massive hemolysis can be quickly deleterious and often fatal. An early diagnosis can improve survival and can be made with inexpensive tests...
May 16, 2018: Revue Médicale Suisse
https://www.readbyqxmd.com/read/29766597/a-functional-assay-for-the-clinical-annotation-of-genetic-variants-of-uncertain-significance-in-diamond-blackfan-anemia
#6
Anna Aspesi, Marta Betti, Marika Sculco, Chiara Actis, Cristina Olgasi, Marcin W Wlodarski, Adrianna Vlachos, Jeffrey M Lipton, Ugo Ramenghi, Claudio Santoro, Antonia Follenzi, Steven R Ellis, Irma Dianzani
Diamond-Blackfan anemia (DBA) is a rare genetic hypoplasia of erythroid progenitors characterized by mild to severe anemia and associated with congenital malformations. Clinical manifestations in DBA patients are quite variable and genetic testing has become a critical factor in establishing a diagnosis of DBA. The majority of DBA cases are due to heterozygous loss-of-function mutations in ribosomal protein (RP) genes. Causative mutations are fairly straightforward to identify in the case of large deletions and frameshift and nonsense mutations found early in a protein coding sequence, but diagnosis becomes more challenging in the case of missense mutations and small in-frame indels...
May 15, 2018: Human Mutation
https://www.readbyqxmd.com/read/29766398/hepatosplenic-t-cell-lymphoma-a-unifying-entity-in-a-patient-with-hemolytic-anemia-massive-splenomegaly-and-liver-dysfunction
#7
Marianna Mavilia, Agnes McAuliffe, Safina Hafeez, Haleh Vaziri
Hepatosplenic T cell lymphoma (HSTCL) is a rare subtype of peripheral non-Hodgkin lymphoma, of which 20% of cases are associated with chronic immunosuppression. It often occurs in patients with inflammatory bowel disease treated with immunomodulating medications such a thiopurines or TNF-alpha inhibitors. Cytopenias are commonly seen but autoimmune hemolytic anemia (AIHA) is rare. Here we present a young male with longstanding ulcerative colitis on chronic azathioprine, exhibiting several rare features of HSTCL...
May 15, 2018: Clinical Journal of Gastroenterology
https://www.readbyqxmd.com/read/29756113/primary-splenic-angiosarcoma-diagnosed-after-splenectomy-for-spontaneous-rupture
#8
Barış Özcan, Metin Çevener, Ayşegül Odabaşı Kargı, Hilmi Dikici, Akın Yıldız, Mustafa Özdoğan, Alihan Gürkan
Primary splenic angiosarcoma is a rare abnormality and has a bad prognosis. It has unknown pathogenesis. This abnormality is usually presented by splenic rupture. Surgery is the most promising treatm Surgery is the most accepted and accurate method for diagnosis and treatment. Surgery before rupture increases the life expectancy. A 65-year-old woman who presented to the emergency room with abdominal pain, abdominal distension, and anemia was found to have a splenic mass and massive ascites. After getting a hemorrhagic sample from the abdomen, the patient was operated with splenic rupture prediagnosis...
2018: Turkish Journal of Surgery
https://www.readbyqxmd.com/read/29755847/-18-f-fdg-pet-ct-findings-in-hepatosplenic-gamma-delta-t-cell-lymphoma-case-reports-and-review-of-the-literature
#9
Michael W Cho, Bennett B Chin
Hepatosplenic Gamma Delta T cell lymphoma (γδHSTL) is a rare, highly aggressive, and rapidly lethal T cell lymphoma which manifests 18 F-FDG PET/CT findings that can mimic benign conditions. Patients with γδHSTL present with unexplained symptoms of a hematologic malignancy like the B symptoms of lymphoma including weight loss, fevers, and night sweats, as well as, splenomegaly and hepatomegaly. Thrombocytopenia, anemia, or neutropenia are also common due to spleen, liver and bone marrow involvement. The peripheral blood, however, typically does not show abnormal T cells...
2018: American Journal of Nuclear Medicine and Molecular Imaging
https://www.readbyqxmd.com/read/29755372/use-of-laser-assisted-optical-rotational-cell-analyzer-lorrca-maxsis-in-the-diagnosis-of-rbc-membrane-disorders-enzyme-defects-and-congenital-dyserythropoietic-anemias-a-monocentric-study-on-202-patients
#10
Anna Zaninoni, Elisa Fermo, Cristina Vercellati, Dario Consonni, Anna P Marcello, Alberto Zanella, Agostino Cortelezzi, Wilma Barcellini, Paola Bianchi
Chronic hemolytic anemias are a group of heterogeneous diseases mainly due to abnormalities of red cell (RBC) membrane and metabolism. The more common RBC membrane disorders, classified on the basis of blood smear morphology, are hereditary spherocytosis (HS), elliptocytosis, and hereditary stomatocytoses (HSt). Among RBC enzymopathies, the most frequent is pyruvate kinase (PK) deficiency, followed by glucose-6-phosphate isomerase, pyrimidine 5' nucleotidase P5'N, and other rare enzymes defects. Because of the rarity and heterogeneity of these diseases, diagnosis may be often challenging despite the availability of a variety of laboratory tests...
2018: Frontiers in Physiology
https://www.readbyqxmd.com/read/29749397/recurrent-somatic-mutations-are-rare-in-patients-with-cryptic-dyskeratosis-congenita
#11
Martin Kirschner, Angela Maurer, Marcin W Wlodarski, Monica S Ventura Ferreira, Anne-Sophie Bouillon, Insa Halfmeyer, Wolfgang Blau, Michael Kreuter, Martin Rosewich, Selim Corbacioglu, Joachim Beck, Michaela Schwarz, Jörg Bittenbring, Markus P Radsak, Christian Matthias Wilk, Steffen Koschmieder, Matthias Begemann, Ingo Kurth, Mirle Schemionek, Tim H Brümmendorf, Fabian Beier
Dyskeratosis congenita (DKC) is a paradigmatic telomere disorder characterized by substantial and premature telomere shortening, bone marrow failure, and a dramatically increased risk of developing myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML). DKC can occur as a late-onset, so-called cryptic form, with first manifestation in adults. Somatic MDS-related mutations are found in up to 35% of patients with acquired aplastic anemia (AA), especially in patients with short telomeres. The aim of our study was to investigate whether cryptic DKC is associated with an increased incidence of MDS-related somatic mutations, thereby linking the accelerated telomere shortening with the increased risk of MDS/AML...
April 2, 2018: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/29749240/why-is-it-necessary-to-examine-retina-when-the-patient-suffers-from-aplastic-anemia
#12
D Tomcikova, A Gerinec, B Busanyova, M Gresikova, S Biskup, K Hortnagel
PURPOSES: To inform about a case of Revesz syndrome (RS) with initial ophthalmological symptomatology of severe proliferative vitreoretinopathy of the left eye (LE). After the aplastic anemia had developed, RS was established. The exudative retinopathy was successfully treated with photocoagulation on the right eye (RE). BACKGROUND: RS is characterized by fatal bone marrow failure, exudative retinopathy, neuroradiographic abnormalities, neurodevelopmental delay and skin abnormalities...
2018: Bratislavské Lekárske Listy
https://www.readbyqxmd.com/read/29744996/hematopoietic-stem-cell-transplantation-without-in-vivo-t-cell-depletion-for-pediatric-aplastic-anemia-a-single-center-experience
#13
Sidan Li, Bin Wang, Lingling Fu, Yilin Pang, Guanghua Zhu, Xuan Zhou, Jie Ma, Yan Su, Maoquan Qin, Runhui Wu
For young patients, HLA-MRD HSCT is the first-line treatment of SAA. However, due to China's birth control policy, few patients could find suitable sibling donors and HLA-MUD. More and more transplantation centers have used Haplo-D as the donor source for young adult and pediatric patients. However, studies with larger amount of pediatric patients are rare. We retrospectively analyzed the data of children with AA who were treated with allogeneic HSCT and compared the therapeutic efficacy of Haplo-HSCT and MRD/MUD group...
May 10, 2018: Pediatric Transplantation
https://www.readbyqxmd.com/read/29743400/-epstein-barr-virus-associated-hemophagocytic-lymphohistiocytosis-subsequent-to-rabbit-antithymocyte-globulin-administration-and-successfully-treated-with-rituximab-in-a-patient-with-aplastic-anemia
#14
Hiroaki Nagata, Takahiro Fujino, Ayako Muramatsu, Yuka Kawaji, Kodai Kuriyama, Muneo Oshiro, Yoshiko Hirakawa, Toshiki Iwai, Hitoji Uchiyama
Rabbit antithymocyte globulin (ATG) is an effective immunosuppressive therapy for patients with aplastic anemia (AA). However, Epstein-Barr virus-associated lymphoproliferative disorder (EBV-LPD) is a rare but serious complication of the therapy. An 81-year-old man was diagnosed with severe AA on the occasion of melena. Because cyclosporine monotherapy did not improve his condition, rabbit ATG was additionally administered. Thirty-one days after the administration of rabbit ATG, the patient presented with fever and general malaise...
2018: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
https://www.readbyqxmd.com/read/29740120/the-clinical-characteristics-and-outcomes-of-follicular-bronchiolitis-in-chinese-adult-patients
#15
Ju Lu, Miao Ma, Qi Zhao, Fanqing Meng, Dongmei Wang, Hourong Cai, Mengshu Cao
Follicular bronchiolitis (FB) is a rare interstitial lung disease (ILD) and has been reported in diverse clinical contexts. Six FB patients demonstrated by surgical lung biopsy (SLB) were reviewed between 2009 and 2017 from Nanjing Drum Tower Hospital in China. The average age of subjects was 42 years old (range: 31-55 years). The clinical symptoms were very mild. The laboratory findings showed elevated Erythrocyte sedimentation rate (ESR) and serum globulin and anemia. Pulmonary function tests were normal in four cases...
May 8, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29736106/a-novel-mitochondrial-dna-deletion-in-patient-with-pearson-syndrome
#16
Rame Khasawneh, Hala Alsokhni, Bayan Alzghoul, Asim Momani, Nazih Abualsheikh, Nazmi Kamal, Mousa Qatawneh
Introduction: Arteriovenous Pearson syndrome is a very rare multisystemic mitochondrial disease characterized by sideroblastic anemia and exocrine pancreatic insufficiency. It is usually fatal in infancy. Case report: We reported a four-month-old infant presented with fever and pancytopenia. Bone marrow examination showed hypoplastic changes and sideroblastic features. Molecular Study showed a novel hetroplasmic mitochondrial deletions (m. 10760 -m. 15889+) in multiple genes (ND4,ND5,ND6, CYTB)...
April 2018: Medical Archives
https://www.readbyqxmd.com/read/29734941/infective-endocarditis-due-to-burkholderia-cepacia-in-a-neonate-a-case-report
#17
Emir Yonas, Vito Damay, Raymond Pranata, Nuvi Nusarintowati
BACKGROUND: Burkholderia is a pathogen that is rarely seen in clinical cases. However, this organism is being found more commonly in hospitals. CASE PRESENTATION: A female Indonesian newborn was referred to our neonatal intensive care unit because of respiratory distress. The newborn had been delivered the previous night via cesarean section. A physical examination revealed intercostal retractions and weak cry. The newborn's gestational history was preterm, small for gestational age, and preterm premature ruptured membrane for 14 hours...
May 8, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29734568/carboxyhemoglobin-a-primer-for-clinicians
#18
Neil B Hampson
One of carbon monoxide's several mechanisms of toxicity is binding with circulating hemoglobin to form carboxyhemoglobin, resulting in a functional anemia. While patients with carbon monoxide poisoning are often said to be "cherry-red," such discoloration is rarely seen. Carboxyhemoglobin levels cannot be measured with conventional pulse oximetry, can be approximated with pulse CO-oximetry, and are most accurately measured with a laboratory CO-oximeter. Carboxyhemoglobin levels are quite stable and can be accurately measured on a transported blood sample...
March 2018: Undersea & Hyperbaric Medicine: Journal of the Undersea and Hyperbaric Medical Society, Inc
https://www.readbyqxmd.com/read/29732576/transfusions-of-least-incompatible-blood-with-intravenous-immunoglobulin-plus-steroids-cover-in-two-patients-with-rare-antibody
#19
Nay Win, Malcolm Needs, Nicole Thornton, Robert Webster, Cherry Chang
BACKGROUND: The therapeutic value of the use of intravenous immunoglobulin (IVIG) to correct anemia and thrombocytopenia as a result of immunologic causes (hemolytic disease of the fetus and newborn and fetal or neonatal alloimmune thrombocytopenia) have been well established. Few published papers exist regarding the use of IVIG in adult settings. We report two patients with clinically significant antibodies against high-incidence antigens, who were successfully transfused with incompatible red blood cells (RBCs), in conjunction with IVIG plus steroids and IVIG...
May 6, 2018: Transfusion
https://www.readbyqxmd.com/read/29731767/whole-exome-sequencing-identified-a-novel-heterozygous-mutation-in-hmbs-gene-in-a-chinese-patient-with-acute-intermittent-porphyria-with-rare-type-of-mild-anemia
#20
Yongjiang Zheng, Jiehua Xu, Shengran Liang, Dongjun Lin, Santasree Banerjee
Acute intermittent porphyria (AIP) is a rare hereditary metabolic disease with an autosomal dominant mode of inheritance. Germline mutations of HMBS gene causes AIP. Mutation of HMBS gene results into the partial deficiency of the heme biosynthetic enzyme hydroxymethylbilane synthase. AIP is clinically manifested with abdominal pain, vomiting, and neurological complaints. Additionally, an extreme phenotypic heterogeneity has been reported in AIP patients with mutations in HMBS gene. Here, we investigated a Chinese patient with AIP...
2018: Frontiers in Genetics
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