- Tuberculosis of the Oral Cavity Misdiagnosed as Precancerous Lesion. [Journal Article]
- ASActa Stomatol Croat 2017; 51(4):326-331
- CONCLUSIONS: Although oral tuberculosis is a rare condition, it must be taken into account in differential diagnosis of refractory painless oral ulcers.
- Identification of a Novel Mutation in the SEC23B Gene Associated With Congenital Dyserythropoietic Anemia Type II Through the Use of Next-generation Sequencing Panel in an Undiagnosed Case of Nonimmune Hereditary Hemolytic Anemia. [Journal Article]
- JPJ Pediatr Hematol Oncol 2018 May 25
- Congenital dyserythropoietic anemias (CDAs) are rare hereditary blood disorders characterized by ineffective erythropoiesis, hemolysis, and erythroblast morphologic abnormalities in the bone marrow. ...
Congenital dyserythropoietic anemias (CDAs) are rare hereditary blood disorders characterized by ineffective erythropoiesis, hemolysis, and erythroblast morphologic abnormalities in the bone marrow. The 3 main types of CDA, I to III, and variant types of CDA, IV-VIII, have been described. The causative genes have been identified as CDAN1, C15ORF41, SEC23B, KIF23, KLF1, and GATA1. CDA type II is the most frequent form. Typical symptoms are jaundice, hepatosplenomegaly, mild-to-severe normocytic anemia, and inadequate reticulocyte response. We report an 18-year-old boy who had chronic mild congenital anemia, jaundice, and splenomegaly mimicking nonautoimmune hemolytic anemia since 18 months of age. Compound heterozygous mutations in SEC23B gene were detected by the use of a gene-targeted next-generation sequencing panel: the already reported missense mutation c.40C>T (p.Arg14Trp), and a new frameshift deletion (c.489_489delG, p.Val164Trpfs*3), confirming the diagnosis of CDA type II. The study underlines the molecular heterogeneity of CDA II and the importance of a precise diagnosis in rare congenital diseases such as CDA II. In consequence, it can be difficult to diagnose because of limited resources, financial constraint, and rarity of disease in the developing country. Advanced laboratories and new molecular approaches may help in diagnosing rare anemias.
- Rare presentation of rickettsial infection as purpura fulminans: a case report. [Journal Article]
- JMJ Med Case Rep 2018 May 26; 12(1):145
- CONCLUSIONS: The treating physician should consider the rare but very treatable condition of rickettsial infection as a differential diagnosis in the etiological diagnostic workup of patients presenting with severe purpuric and hemorrhagic rash with fever.
- Surface immunoglobulins of erythrocytes and platelets in dogs naturally infected by Rangelia vitalii. [Journal Article]
- MPMicrob Pathog 2018 May 23; 121:245-251
- Rangelia vitalii is a protozoan of the Babesiidae family that parasitizes domestic and wild dogs in South American countries. The main laboratory findings in blood samples from animals infected by R....
Rangelia vitalii is a protozoan of the Babesiidae family that parasitizes domestic and wild dogs in South American countries. The main laboratory findings in blood samples from animals infected by R. vitalii are anemia and thrombocytopenia. The aim of this study was to detect IgM and IgG immunoglobulins on the surface of red blood cells and platelets, as well as to determine the percentage of reticulated platelets and reticulocytes in dogs naturally infected by R. vitalii. Blood samples from twenty dogs seen at the Veterinary Hospital of the Federal University of Santa Maria (UFSM) were divided into two groups: the diseased group consisted of blood samples from 10 animals with the diagnosis of rangeliosis, and the healthy group (control) consisted of samples from 10 healthy animals. All diseased dogs showed normocytic normochromic anemia but showed no differences (p > 0.05) in reticulocyte counts compared to healthy dogs. Moreover, IgM and IgG immunoglobulins were detected on the surface of the plasma membrane of red blood cells from both groups, but the amounts did not differ between groups (p > 0.05). Thrombocytopenia in infected animals was classified as severe. The percentage of reticulated platelets was higher (p < 0.001) in diseased dogs than in healthy animals. Diseased animals showed more IgM immunoglobulins bound to the surface of platelets than did the healthy group (p < 0.001). However, the amount of IgG bound to the surface of platelets was not different between groups. In conclusion, we showed that R. vitalii caused immune-mediated thrombocytopenia since IgM immunoglobulins were found on the surface of platelets of diseased dogs. We suggest that the binding of immunoglobulins on platelet surfaces contributes to early destruction of these cells and, consequently, alterations in hemostasis. An increase in reticulated platelets was noted in response to thrombocytopenia, indicating active thrombopoiesis.
- Therapeutic impact of rHuEPO on abnormal platelet APP, BACE 1, presenilin 1, ADAM 10 and Aβ expressions in chronic kidney disease patients with cognitive dysfunction like Alzheimer's disease: A pilot study. [Journal Article]
- BPBiomed Pharmacother 2018; 104:211-222
- CONCLUSIONS: This study demonstrated that rHuEPO is an effective neuroprotective agent in the context of CKD associated cognitive dysfunction and proved its clinical usefulness.
- Synchronous gastric and duodenal metastases from head and neck squamous cell carcinoma: a unique presentation of upper gastrointestinal bleeding. [Journal Article]
- AGAnn Gastroenterol 2018 May-Jun; 31(3):381-383
- Metastatic disease to the stomach or duodenum is an infrequent diagnosis, and head and neck squamous cell carcinoma (HNSCC) is one of the least common primary malignancies that lead to gastric or duo...
Metastatic disease to the stomach or duodenum is an infrequent diagnosis, and head and neck squamous cell carcinoma (HNSCC) is one of the least common primary malignancies that lead to gastric or duodenal metastases. We report the case of a 65-year-old man with human immunodeficiency virus infection and previously diagnosed HNSCC who presented with melena. The patient had a percutaneous endoscopic gastrostomy tube placed 3 months prior to his presentation. Laboratory testing was significant for normocytic anemia and a digital rectal examination was positive for melena. Esophagogastroduodenoscopy revealed numerous cratered nodules with contact bleeding in the stomach as well as the duodenum that appeared malignant. Biopsies of the gastric and duodenal nodules were positive for p40 and CK 5/6, consistent with metastatic squamous cell carcinoma.
- Significantly higher frequencies of hemoglobin, iron, vitamin B12, and folic acid deficiencies and of hyperhomocysteinemia in patients with Behcet's disease. [Journal Article]
- JFJ Formos Med Assoc 2018 Apr 28
- CONCLUSIONS: There are significantly higher frequencies of hemoglobin, iron, vitamin B12, and folic acid deficiencies and of hyperhomocysteinemia in BD patients. The normocytic anemia is the most common type of anemia in our 63 BD patients. We suggest that supplementations of vitamin BC capsules plus deficient vitamin B12 and/or folic acid may reduce the abnormally high serum homocysteine level to a relatively lower level in BD patients with hyperhomocysteinemia.
- Acquired Amegakaryocytic Thrombocytopenia and Pure Red Cell Aplasia in Thymoma. [Journal Article]
- CRCase Rep Hematol 2018; 2018:5034741
- Association of thymoma with myasthenia gravis, pure red cell aplasia, and aplastic anemia is well documented. However, thymoma complicated by acquired amegakaryocytic thrombocytopenia (AAMT) is rarel...
Association of thymoma with myasthenia gravis, pure red cell aplasia, and aplastic anemia is well documented. However, thymoma complicated by acquired amegakaryocytic thrombocytopenia (AAMT) is rarely reported. Here, we present a case of a 60-year-old male with past medical history of recurrent invasive thymoma who presented with cough and blood in sputum. He was found to have severe normocytic normochromic anemia and thrombocytopenia that did not improve with intravenous steroids or multiple transfusions of red cells and platelets. Subsequent bone marrow biopsy showed severely depleted megakaryocytes and erythroid precursor cells with relative myeloid hyperplasia suggestive of amegakaryocytic thrombocytopenia and red cell aplasia. He was started on oral cyclosporine but subsequently developed leukopenia and refused any further treatment or diagnostic procedures and left the hospital against medical advice. AAMT, thus, may be a very early presentation of impending aplastic anemia, and treating physicians need to be aware of this entity.
- Clinical Course of Homozygous Hemoglobin Constant Spring in Pediatric Patients. [Journal Article]
- JPJ Pediatr Hematol Oncol 2018 Apr 17
- CONCLUSIONS: Pediatric patients with homozygous Hb Constant Spring developed severe anemia in utero and up to the age of 2 to 3 months postnatal, requiring blood transfusions. Subsequently, their anemia was mild with no evidence of hepatosplenomegaly. Their Hb level was above 9 g/dL with hypochromic microcytic blood pictures as well as wide RDW. Blood transfusions have not been necessary since then.
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- Acute Lymphoblastic Leukemia Presenting with Liver Infiltration and Severe Lactic Acidosis. [Journal Article]
- AJAm J Case Rep 2018 Apr 17; 19:453-457
- CONCLUSIONS: Cancer, particularly hematological malignancy, should be considered as an etiology and differential diagnosis of type-B lactic acidosis. Prompt recognition and urgent initiation of specific therapy to control the underlying malignancy are critical to manage this serious metabolic complication.