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https://www.readbyqxmd.com/read/28447964/a-rare-cause-of-acute-gastrointestinal-hemorrhage-ileal-lipoma-case-report
#1
E Manna, Fabrizio Maria Frattaroli, E Polettini, Aldo Nunziale, Giuseppe Pappalardo
Primary small bowel tumors account for 1-6% of all Gastrointestinal (G.I.) tract malignancies. Among these pedunculated lipomas are unusual. We report a case of a 66-year-old male with a history of G.I. hemorrhage and acute anemia, negative upper and lower endoscopies and a pedunculated lipoma in distal ileum, revealed by CT enterography. The patient was successfully treated by open surgery. Patients with G.I. hemorrhage and negative upper and lower endoscopies need an accurate evaluation of small bowel. Multislice CT enterography or Magnetic Resonance enteroclysis/ enterography represent the fastest and more accurate tools to obtain an exhaustive evaluation of small bowel...
2017: Annali Italiani di Chirurgia
https://www.readbyqxmd.com/read/28447549/a-child-with-severe-iron-deficiency-anemia-and-a-complex-tmprss6-genotype
#2
Anna Paola Capra, Elisa Ferro, Laura Cannavò, Maria Angela La Rosa, Giuseppina Zirilli
OBJECTIVES: We report a case of a 7-year-old girl with severe hypochromic microcytic anemia, who was unresponsive to classical iron supplements. We suspected IRIDA, iron-refractory iron-deficiency anemia, a genetic iron metabolism disorder, caused by TMPRSS6 variations. TMPRSS6 encodes matriptase-2, a negative regulator of hepcidin, and its pathological variants are related to normal to high levels of hepcidin. We analyzed the TMPRSS6 gene and we improved clinical management of the patient, selecting the appropriate supplementation therapy...
April 27, 2017: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/28447424/does-morphology-matter-in-2017-an-approach-to-morphologic-clues-in-non-neoplastic-blood-and-bone-marrow-disorders
#3
REVIEW
D S Chabot-Richards, K Foucar
Numerous non-neoplastic and neoplastic conditions manifest with distinctive features in blood. Although automated complete blood count (CBC) data are essential, CBC information alone is insufficient for diagnosis. Consequently, morphologic review of blood smears is still relevant in the era of sophisticated automated analyzer systems. Pathologist interpretation of the peripheral blood smear, in conjunction with CBC and clinical information, can provide rapid diagnostic information and guide cost-effective targeted laboratory testing...
May 2017: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/28446857/hemolytic-anemia-caused-by-kinking-of-dacron-grafts-implanted-in-repair-of-after-aortic-dissection
#4
Feridoun Sabzi, Fahimeh Ghasemi, Atefeh Asadmobini
BACKGROUND: Hemolytic anemia caused by a kinked Dacron graft is a rare complication after repair of acute aortic dissection. We present a case of hemolytic anemia due to kinking of previously implanted Dacron graft for ascending aorta dissection treated by surgery and replaced with new Dacron. CASE DETAILS: We report a case of postoperative hemolytic anemia with kinking of the graft at the outer graft layer and intra luminal bulging of the inner graft. Postoperative computed tomography showed Dacron graft kinking at the mid part of the graft...
September 2016: Ethiopian Journal of Health Sciences
https://www.readbyqxmd.com/read/28443241/massive-renal-replacement-lipomatosis-with-foci-of-xanthogranulomatous-pyelonephritis-in-a-horseshoe-kidney
#5
Harutake Sawazaki, Daiji Araki, Kazunori Miyata, Keiichi Ito
Renal replacement lipomatosis (RRL) is a rare condition that occurs at the end of the spectrum of renal tissue replacement by fat. Xanthogranulomatous pyelonephritis (XGP) is a granulomatous inflammation characterized by destruction of renal parenchyma and replacement by lipid-laden macrophages. We present the case of a 75-year-old man who complained of severe anemia 34 years after right nephrolithotomy. Computed tomography revealed a huge low-density mass with renal parenchyma atrophy on the right side of horseshoe kidney...
July 2017: Urology Case Reports
https://www.readbyqxmd.com/read/28441375/primary-adrenal-angiosarcoma-a-rare-and-potentially-misdiagnosed-tumor
#6
Ariel Grajales-Cruz, Francis Baco-Viera, Ernesto Rive-Mora, Carlos Ramirez-Tanchez, David Tasso, Norma Arroyo-Portela, Elizabeth Calderon, Ilean Joan Padua-Octaviani, William Caceres-Perkins
A man aged 69 years presented with acute right flank pain secondary to a hemorrhagic large adrenal tumor. En bloc resection was performed to repair the inferior vena cava. Immunoperoxidase levels in the tumor were positive for factor VIII and CD31 and negative for S100, protein Melan-A, CD34, synaptophysin, chromogranin, desmin, muscle specific actin, ETFA (EMA), KRT20 (CK20), CDX2, TTF1, LNPEP (PLAP), inhibin, ?-fetoprotein, CD30, hepatocyte paraffin, and aberrant expression of cytokeratin 7 and pankeratin...
April 2017: Cancer Control: Journal of the Moffitt Cancer Center
https://www.readbyqxmd.com/read/28440412/a-rare-fanca-gene-variation-as-a-breast-cancer-susceptibility-allele-in-an-iranian-population
#7
Sakineh Abbasi, Mina Rasouli
Fanconi Anemia (FA) is an autosomal recessive syndrome characterized by congenital abnormalities, progressive bone marrow failure and Fanconi anemia complementation group A (FANCA) is also a potential breast and ovarian cancer susceptibility gene. A novel allele with tandem duplication of 13 base pair sequence in promoter region was identified. To investigate whether the 13 base pair sequence of tandem duplication in promoter region of the FANCA gene is of high penetrance in patients with breast cancer and to determine if the presence of the duplicated allele was associated with an altered risk of breast cancer, the present study screened DNA in blood samples from 304 breast cancer patients and 295 normal individuals as controls...
April 20, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28438574/extreme-hypertriglyceridemia-pseudohyponatremia-and-pseudoacidosis-in-a-neonate-with-lipoprotein-lipase-deficiency-due-to-segmental-uniparental-disomy
#8
Ambika P Ashraf, Anna C E Hurst, Abhimanyu Garg
Extreme hypertriglyceridemia is rare in the neonatal period. We report a neonate with lipoprotein lipase (LPL) deficiency who presented with diagnostic and management conundrum. A full-term 36-day-old female was noted to have "Pepto-Bismol like" blood when repeating a newborn screening. The initial plasma triglyceride level was 24,318 mg/dL. The laboratory tests revealed serum bicarbonate level of <5 mmol/L, sodium of 127 mmol/L, and severe anemia. There were no signs of acute distress. The point of care capillary blood testing, however, demonstrated normal serum pH (7...
April 3, 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28435655/a-80-year-old-woman-with-b-cell-prolymphocytic-leukemia
#9
Alparslan Merdin, Jale Yıldız, Sinan Dal Mehmet, Merih Kızıl Çakar, Hikmetullah Batgi, Emre Tekgündüz, Aykut Onursever, Fevzi Altuntaş
Prolymhocytic leukemia (PLL) is a rare subtype of lymphocytic leukemias and its cells are immature lymphocytes. It is divided into 2 subgroups: T-PLL and B-PLL according to the lymphocytic origin of the cells. Discriminating B-PLL from other diseases with clinically-similar features is important because of the different treatment approaches and follow-up programs. Hereby, we report a 80-year-old woman presenting with fatigue, leucocytosis and mild anemia. Her peripheral blood smear evaluation revealed 85% prolymphocytes with moderately condensed nuclear chromatin, prominent nucleoli, and a faintly basophilic cytoplasm...
February 23, 2017: Hematology Reports
https://www.readbyqxmd.com/read/28430954/increased-multinucleated-megakaryocytes-as-an-isolated-finding-in-bone-marrow-%C3%A2-a-rare-finding-and-its-clinical-significance
#10
Majd D Jawad, Ronald S Go, Kaaren K Reichard, Min Shi
Objectives: Multinucleated megakaryocytes are a unique morphologic form of megakaryocytes characterized by multiple, distinctly separated nuclei. We investigated whether increased multinucleated megakaryocytes (≥25%) in otherwise normal-appearing bone marrow were associated with the development of a myelodysplastic syndrome (MDS). Methods: We retrospectively reviewed the medical records and bone marrow biopsy specimens of patients evaluated at our institution from 2011 to 2015 that met all of the following criteria: (1) 25% or more multinucleated megakaryocytes, (2) no other dysplastic features, (3) absence of a myeloid neoplasm, and (4) absence of neoplastic karyotypic abnormalities...
November 1, 2016: American Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28428908/metastatic-squamous-cell-carcinoma-of-colon-from-esophageal-cancer
#11
Natasha Garg, Constance Stoehr, Yan Shi Zhao, Heather Rojas, Chung-Tsen Hsueh
BACKGROUND: Esophageal cancer including squamous cell carcinoma (SCC) and adenocarcinoma represents 4% of all cancers in the United States. Patients with esophageal cancer frequently present with locally advanced disease, and about 40% of patients have evidence of metastatic disease on presentation. Common sites of metastasis include liver, lung and bone. Here, we present a rare case of colonic metastasis from primary esophageal SCC. CASE PRESENTATION: A 60-year-old Caucasian male with a history of 20-pack-year cigarette smoking received surgery and adjuvant chemoradiotherapy for locally advanced SCC of larynx...
2017: Experimental Hematology & Oncology
https://www.readbyqxmd.com/read/28428897/acute-myeloid-leukemia-with-basophilic-differentiation-transformed-from-myelodysplastic-syndrome
#12
Yasuhiro Tanaka, Atsushi Tanaka, Akiko Hashimoto, Kumiko Hayashi, Isaku Shinzato
Myelodysplastic syndrome (MDS) terminally transforms to acute myeloid leukemia (AML) or bone marrow failure syndrome, but acute myeloid leukemia with basophilic differentiation has been rarely reported. An 81-year-old man was referred to our department for further examination of intermittent fever and normocytic anemia during immunosuppressive treatment. Chromosomal analysis showed additional abnormalities involving chromosome 7. He was diagnosed as having MDS. At the time of diagnosis, basophils had not proliferated in the bone marrow...
2017: Case Reports in Hematology
https://www.readbyqxmd.com/read/28428532/ceftriaxone-induced-hemolytic-anemia-in-a-jehovah-s-witness
#13
James Tasch, Pedro Gonzalez-Zayaz
BACKGROUND Drug-induced immune hemolytic anemia (DIIHA) is a rare condition that may result from the administration of an antibiotic, most notably the cephalosporin class, commonly used in both the adult and pediatric populations. A delay in recognition by a provider may lead to continuation of the offending agent and possibly result in fatal outcomes. CASE REPORT We report the case of a 65-year-old woman on ceftriaxone infusions after being diagnosed with acute mitral valve endocarditis 3 weeks prior, which presented with severe anemia and bilateral transient vision loss...
April 21, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28425751/development-of-red-blood-cell-autoantibodies-following-treatment-with-checkpoint-inhibitors-a-new-class-of-anti-neoplastic-immunotherapeutic-agents-associated-with-immune-dysregulation
#14
Laura L Cooling, John Sherbeck, Jonathon C Mowers, Sheri L Hugan
Ipilimumab, nivolumab, and pembrolizumab represent a new class of immunotherapeutic drugs for treating patients with advanced cancer. Known as checkpoint inhibitors, these drugs act to upregulate the cellular and humoral immune response to tumor antigens by inhibiting T-cell autoregulation. As a consequence, they can be associated with immune-related adverse events (irAEs) due to loss of self-tolerance, including rare cases of immune-related cytopenias. We performed a retrospective clinical chart review, including serologic, hematology, and chemistry laboratory results, of two patients who developed red blood cell (RBC) autoantibodies during treatment with a checkpoint inhibitor...
January 2017: Immunohematology
https://www.readbyqxmd.com/read/28422977/defining-the-complex-phenotype-of-severe-systemic-loxoscelism-using-a-large-electronic-health-record-cohort
#15
Jamie R Robinson, Vanessa E Kennedy, Youssef Doss, Lisa Bastarache, Joshua Denny, Jeremy L Warner
OBJECTIVE: Systemic loxoscelism is a rare illness resulting from the bite of the recluse spider and, in its most severe form, can lead to widespread hemolysis, coagulopathy, and death. We aim to describe the clinical features and outcomes of the largest known cohort of individuals with moderate to severe loxoscelism. METHODS: We performed a retrospective, cross sectional study from January 1, 1995, to December 31, 2015, at a tertiary-care academic medical center, to determine individuals with clinical records consistent with moderate to severe loxoscelism...
2017: PloS One
https://www.readbyqxmd.com/read/28419882/novel-homozygous-fancl-mutation-and-somatic-heterozygous-setbp1-mutation-in-a-chinese-girl-with-fanconi-anemia
#16
Weiqing Wu, Yang Liu, Qinghua Zhou, Qin Wang, Fuwei Luo, Zhiyong Xu, Qian Geng, Peining Li, Hui Z Zhang, Jiansheng Xie
Fanconi Anemia (FA) is a rare genetically heterogeneous disorder with 17 known complement groups caused by mutations in different genes. FA complementation group L (FA-L, OMIM #608111) occurred in 0.2% of all FA and only eight mutant variants in the FANCL gene were documented. Phenotype and genotype correlation in FANCL associated FA is still obscure. Here we describe a Chinese girl with FA-L caused by a novel homozygous mutation c.822_823insCTTTCAGG (p.Asp275LeufsX13) in the FANCL gene. The patient's clinical course was typical for FA with progression to bone marrow failure, and death from acute myelomonocytic leukemia (AML-M4) at 9 years of age...
April 15, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28417064/adenocarcinoma-of-the-lung-presenting-as-thrombotic-thrombocytopenic-purpura
#17
Ahmed Dirweesh, Waqas Siddiqui, Muhammad Khan, Praneet Iyer, Marc Seelagy
Acquired thrombotic thrombocytopenic purpura (TTP) usually presents as severe microangiopathic hemolytic anemia (MAHA) and thrombocytopenia in a previously healthy individual. It occurs in approximately three in one million adults and 1 in 10 million children annually. The incidence is increased in females and blacks. Diagnosing TTP and initiating therapy with plasma exchange is a must to avoid preventable complications. Acquired thromotic microangiopathy has been linked to collagen vascular diseases, use of certain medications, organ transplants, infections, pregnancy and cancer...
2017: Respiratory Medicine Case Reports
https://www.readbyqxmd.com/read/28416507/thrombotic-thrombocytopenic-purpura
#18
Bérangère S Joly, Paul Coppo, Agnes Veyradier
Thrombotic thrombocytopenic purpura (TTP) is a rare and life-threatening thrombotic micro-angiopathy characterized by a microangiopathic hemolytic anemia, severe thrombocytopenia and organ ischemia linked to disseminated microvascular platelet rich-thrombi. TTP is specifically related to a severe deficiency in ADAMTS13 (A Disintegrin and Metalloprotease with ThromboSpondin type 1 repeats, member 13), the specific von Willebrand factor-cleaving pro-tease. ADAMTS13 deficiency is most frequently acquired via ADAMTS13 autoantibodies but rarely, it is inherited via mutations of ADAMTS13 gene...
April 17, 2017: Blood
https://www.readbyqxmd.com/read/28414664/gonococcal-endocarditis-the-gift-that-stops-giving-an-uncommon-presentation-of-a-common-disease
#19
G Olayemi, M Oferczak, A Elagizi, I El-Abbassi, M Eschete, J Crowe
INTRODUCTION: Gonorrhea is the 2nd most common sexually transmitted disease in the US with 800,000 cases of gonorrhea each year. Disseminated gonorrhea infection occurs in 0.5 percent - 3 percent of these patients and is more frequent in woman younger than 40 years of age. CASE: A 36 year old woman with a history of polysubstance abuse presented with 10 day history of feeling generally unwell. At presentation, vitals were remarkable for tachycardia and hypotension...
March 2017: Journal of the Louisiana State Medical Society: Official Organ of the Louisiana State Medical Society
https://www.readbyqxmd.com/read/28413775/an-interesting-case-of-mycoplasma-pneumonia-associated-multisystem-involvement-and-diffuse-alveolar-hemorrhage
#20
Rashmi Mishra, Edison Cano, Sindhaghatta Venkatram, Gilda Diaz-Fuentes
Severe mycoplasma pneumonia is a rare entity with only 0.5-2% of cases having a fulminant course. We present a 74-year-old woman with hypertension, diabetes mellitus and remote history of marginal zone B-cell lymphoma admitted with abdominal pain and diarrhea of 1-2 days associated with body-aches, dyspnea, dry cough and weight loss for 2-3 weeks. On physical exam, she was febrile, tachypneic, tachycardic and hypoxic on room air. Chest examination revealed diffuse crackles and end-expiratory wheezes. Laboratory tests showed anemia, acute-on-chronic kidney injury and hyaline casts and epithelial cells in the urine analysis...
2017: Respiratory Medicine Case Reports
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