Thrombotic microangiopathy and disseminated intravascular coagulation in a patient with carcinomatosis of the bone marrow due to gastric adenocarcinoma: Case report.

Carcinomatosis of the bone marrow is a rare clinical condition characterized by diffuse tumor infiltration of the bone marrow accompanied by hematological abnormalities, including thrombotic microangiopathy (TMA) and disseminated intravascular coagulation (DIC). In patients with gastric carcinoma, this association is infrequent. Below we present a case of a 19-year-old female patient with no known pathological history who presented with upper digestive tract bleeding. Upon examination, anemia and thrombocytopenia were documented, with schistocytes in the peripheral blood smear and prolonged coagulation times. Endoscopic studies indicated a lesion in the Borrmann IV gastric body, and the bone marrow biopsy showed the presence of signet ring cells. Because there was no possibility of systemic therapy, the patient died during hospitalization. This case contributes to the medical literature by describing an unusual presentation of a very frequent pathology.

Anemia de Fanconi / Fanconi anemia

Resumen: La anemia de Fanconi es una enfermedad hereditaria con patrón de transmisión autosómico recesivo, asociada con múltiples mutaciones en al menos 20 genes cuyos productos forman parte de los mecanismos de reparación del material genético en las células. Estas mutaciones generan inestabilidad cromosomal que resulta en manifestaciones clínicas muy diversas, las más características son la insuficiencia de médula ósea, anormalidades congénitas y alta predisposición a neoplasias. El diagnóstico clínico de este trastorno es difícil, no sólo por su heterogeneidad, sino también porque es poco sospechado, se necesitan pruebas de laboratorio específicas para poder confirmarlo. De la misma manera, el tratamiento de la enfermedad es difícil porque está enfocado principalmente al manejo de los síntomas y a la prevención de afecciones asociadas, por lo que la anemia de Fanconi debe ser conocida para poder dar a los pacientes el seguimiento correcto.

Abstract Fanconi anemia is a hereditary disease with an autosomal recessive transmission pattern, associated with multiple mutations on at least 20 genes whose products are part of the cell's genetic material repair mechanisms. These mutations produce chromosomal instability, which results in diverse clinical manifestations; the most characteristic is bone marrow failure, congenital abnormalities and a high predisposition to neoplasms. Clinical diagnosis of this disorder is difficult, not only due to its heterogeneity but also because is little suspected, being necessary laboratory test to allow confirmation. In like manner, treatment of the disease is difficult as its mainly focused on symptoms management and prevention of associated conditions, therefore Fanconi anemia needs to be known in order to be able to give patients a correct follow up.

Efeito compensatório do fibrinogênio em paciente com aplasia de medula óssea, choque séptico e trombocitopenia grave guiado por tromboelastometria: relato de caso / Compensatory effect of fibrinogen in a patient with bone marrow aplasia, septic shock, and severe thrombocytopenia guided by thromboelastometry: a case report

RESUMO A transfusão de concentrado de plaquetas é prática comum para prevenção de sangramento espontâneo ou decorrente de procedimentos invasivos; sabe-se que a transfusão de componentes alogênicos do sangue se associa a aumento da mortalidade e piora do desfecho clínico. A força do coágulo é avaliada por meio da tromboelastometria rotacional e determinada pela interação entre plaquetas e fibrinogênio. O efeito compensatório do incremento na concentração sérica de fibrinogênio na força do coágulo, em pacientes com trombocitopenia, tem sido demonstrado em diferentes contextos clínicos, incluindo sepse. Relatamos o caso de uma paciente com trombocitopenia grave, cujo resultado da tromboelastometria rotacional demonstrou efeito compensatório na força do coágulo determinada pelos níveis plasmáticos aumentados de fibrinogênio como reagente de fase aguda em pacientes sépticos. Relatamos o caso de uma paciente de 62 anos com diagnóstico de aplasia de medula óssea admitida a uma unidade de terapia intensiva com choque séptico e trombocitopenia grave. Nas primeiras 24 horas na unidade de terapia intensiva, ela apresentou quadro clínico de insuficiência respiratória aguda e choque. Foi necessário utilizar ventilação mecânica invasiva e fármaco vasoativo. A radiografia de tórax mostrou padrão de lesão pulmonar bilateral. Desta forma, foi solicitada broncoscopia com lavagem broncoalveolar para investigação diagnóstica. Conduziu-se uma tromboelastometria rotacional, e seu resultado mostrou perfil de coagulação normal. Apesar da trombocitopenia grave (1.000/mm3), os níveis de fibrinogênio aumentaram (1.050mg/dL) devido ao choque séptico. A broncoscopia foi realizada sem que subsequentemente ocorresse sangramento ativo. Este caso relata o uso da tromboelastometria como ferramenta diagnóstica em distúrbios da coagulação de pacientes graves, permitindo prevenir o uso desnecessário de transfusões profiláticas de concentrado de plaquetas.

ABSTRACT Platelet transfusion is a common practice to prevent spontaneous bleeding or bleeding due to invasive procedures. Transfusion of allogeneic blood components is associated with increased mortality and a worse clinical outcome. The clot strength is assessed by thromboelastometry and determined by the interaction between platelets and fibrinogen. The compensatory effect of high levels of fibrinogen on clot strength in patients with thrombocytopenia has been demonstrated in different clinical settings including sepsis. We report the case of a patient with severe thrombocytopenia whose thromboelastometry showed clot strength that was compensated for by the increase in plasma fibrinogen levels as an acute phase reactant of septic patients. Here, we report a case of a 62-year-old female diagnosed with bone marrow aplasia admitted in the intensive care unit with septic shock and severe thrombocytopenia. During the first 24 hours in the intensive care unit, she presented acute respiratory insufficiency and circulatory shock. The use of invasive mechanical ventilation and norepinephrine was required. Her chest X-ray showed bilateral lung injury. Thus, bronchoscopy with bronchoalveolar lavage was requested. Thromboelastometry was performed and resulted in a normal coagulable profile. Despite severe thrombocytopenia (1,000/mm3), fibrinogen levels were increased (1,050mg/dL) due to septic shock. Bronchoscopy was performed without any active or further bleeding. Here, we report the use of thromboelastometry in the diagnosis of coagulation disorders, preventing unnecessary prophylactic platelet transfusion.

Monoartritis del codo e infarto óseo como presentación inicial de enfermedad linfoproliferativa / Elbow monoarthritis and bone infarction as a form of presentation of B cell lymphoma: case report

We report a 68-year-old woman presenting with pain and swelling in her left elbow. An elbow magnetic resonance with gadolinium evidenced bone marrow infiltration and a bone infarct. Given these findings, a body CT scan was performed which showed multiple mesenteric adenopathies and a large retroperitoneal mass. A lymph node biopsy confirmed a B cell lymphoma. Monoarthritis with no systemic manifestations represents a highly uncommon form of presentation of lymphoma. Moreover it usually affects inferior limbs, particularly in the presence of bone infarction.

Focal osteoporotic bone marrow defects on dental implant treated patients: a 5-year period prevalence study / Defectos focales osteoporóticos de la médula ósea en pacientes tratados con implantes dentales: estudio prevalencia de período a 5 años

Dental implants are considered the most effective treatment for teeth absence. Nevertheless, there are some bone conditions that could affect the osseointegration process, thus affecting the clinical and radiographic success rates. One of these conditions could be the Focal Osteoporotic Bone Marrow Defects. The objective of this study was to describe the 5-year period prevalence of Focal Osteoporotic Bone Marrow Defects (FOBMD) on dental implant treated patients. descriptive retrospective study was conducted. We systematically reviewed the clinical and radiographic data of treated patients in a Dental Implant Unit since January 2010 through December 2014. Once a FOBMD case was found, a detailed questionnaire was applied to the chart looking for demographic, medical and dental characteristics (clinical and radiographic). Also in a sub-sample histological analysis was carried out. Period prevalence (PP) was estimated calculating proportions and 95 % confidence intervals. Statistical analysis was performed using Stata v. 13.2 for Windows (Stata Corp., TX., USA). FOBMD 5-yPP was 9.52 % (CI 95 %: 6.87­13.5 %). We found 42 defects in 34 patients. Within the FOBMD patients, average age was 55.4±11.9 years, 67.64 % being females. Ninety-seven percent of the defects were located in the lower jaw, 79.41 % unilateral, 69.04 % single missed teeth lesions, 71.42 % affecting molar area and 59.52 % located on the right side of the maxillae. Histological analysis revealed inflammatory cells, dystrophic calcifications, hemorrhagic material and fatty cells for all the cases. FOBMD prevalence is low, so it should be considered as a rare condition but showing an exponential growing trend over the time. With no previous epidemiological data, these findings should be considered as a caution during x-ray examinations and treatment planning, in order to avoid surgical or prosthetic complications. Local factors as previous root canal treatments should be considered when elucidating reasons for its appearance.

Los implantes dentales se consideran el tratamiento más eficaz para la ausencia dentaria. Sin embargo, hay algunas condiciones óseas que pueden afectar el proceso de osteointegración, lo que afecta a las tasas de éxito clínico y radiográfico. Una de estas condiciones podrían ser los defectos focales osteoporóticos de la médula ósea (DFOMO). El objetivo de este estudio fue describir la prevalencia en un periodo de 5 años de los DFOMO en pacientes tratados con implantes dentales. Se realizó un estudio descriptivo y retrospectivo, con una revisión sistemática de los datos clínicos y radiológicos de pacientes tratados en una unidad de implantes dentales desde enero de 2010 hasta diciembre de 2014. Cuando se encontró algún caso de DFOMO, se aplicó un cuestionario detallado sobre la ficha en busca de características demográficas, médicas y dentales (clínicas y radiográficas). También se realizó un análisis histológico de la submuestra. Se estimó la prevalencia del periodo (PP), el cálculo de proporciones e intervalos de confianza con un 95 %. El análisis estadístico se realizó con el programa Stata v. 13.2 para Windows (Stata Corp, TX., EE.UU.). La prevalencia del periodo para los 5 años de DFOMO fue 9,52 % (IC del 95 %: 6,87 % a 13,5 %). Encontrado 42 defectos en 34 pacientes. Dentro de los pacientes con DFOMO, la edad promedio fue de 55,4±11,9 años, y 67,64 % fueron mujeres. El 97 % de los defectos se encuentraran en la mandíbula. El 79,41 % fue unilateral y 69,04 % con lesiones individuales de pérdidas dentarias; el 71,42 % afectó la zona de los molares y 59,52 % se encontró en el lado derecho del maxilar. El análisis histológico reveló células inflamatorias, calcificaciones distróficas, material hemorrágico y células grasas, en todos los casos. La prevalencia de DFOMO fue baja, por lo que debe considerarse como una enfermedad poco frecuente pero que muestra una tendencia creciente y exponencial en el tiempo. Sin datos epidemiológicos previos, estos resultados deben ser considerados para tener precaución durante los exámenes imagenológicos y la planificación del tratamiento, con el fin de evitar complicaciones quirúrgicas o prótesicas. Los factores locales como tratamientos endodónticos previos deben ser considerados para dilucidar las razones de su aparición.

Paroxysmal nocturnal hemoglobinuria clone in 103 Brazilian patients: diagnosis and classification

Background: Paroxysmal nocturnal hemoglobinuria is an acquired chronic hemolytic ane- mia, which often manifests as peripheral blood cytopenias and thrombosis. Objective: The aim of this study is to describe a Brazilian population of paroxysmal nocturnal hemoglobinuria patients. Methods: One hundred and three paroxysmal nocturnal hemoglobinuria cases were retrospectively reviewed and the clinical presentation, thrombosis, survival, and clone size were assessed. Diagnosis was established by flow cytometry. Results: Fifty-two male and 51 female patients with a median age of 24.1 years (5.5-62 years) were studied. Clinical symptoms included hemoglobinuria (18.4%), infection (46.6%) and thrombosis (16.5%), and 80.6% had pancytopenia. Patients were classified as classic parox- ysmal nocturnal hemoglobinuria (10), paroxysmal nocturnal hemoglobinuria with aplastic anemia (39), and paroxysmal nocturnal hemoglobinuria with subclinical features and aplas- tic anemia (54). There were significant differences in terms of median age, size of clone, clinical symptoms, and peripheral blood cell counts between the three subcategories. The clone size in erythrocytes and granulocytes were respectively 0.04% (range: 0-18%) and 7.3% (range: 0.3-68.7%) in patients with subclinical features and aplastic anemia, 15.8% (range: 0-99.7%) and 63.0% (range: 1.7-99.8%) in patients with aplastic anemia alone, and 82.2% (range: 0-99.85%) and 98.0% (81.3-100.0%) in Classic disease. Statistical differences were identified for platelets (p-value = 0.001), lactate dehydrogenase (p-value = 0.002) and the clone size (p-value < 0.001) in patients who suffered thrombotic events compared to those who did not. Overall survival was 81.7%, with patients with subclinical features and aplastic anemia having lower overall survival (76.5%). Conclusion: This retrospective review of 103 patients over an 11-year period represents the largest collection of paroxysmal...

Paroxysmal nocturnal hemoglobinuria clone in 103 Brazilian patients: diagnosis and classification.

BACKGROUND: Paroxysmal nocturnal hemoglobinuria is an acquired chronic hemolytic anemia, which often manifests as peripheral blood cytopenias and thrombosis. OBJECTIVE: The aim of this study is to describe a Brazilian population of paroxysmal nocturnal hemoglobinuria patients. METHODS: One hundred and three paroxysmal nocturnal hemoglobinuria cases were retrospectively reviewed and the clinical presentation, thrombosis, survival, and clone size were assessed. Diagnosis was established by flow cytometry. RESULTS: Fifty-two male and 51 female patients with a median age of 24.1 years (5.5-62 years) were studied. Clinical symptoms included hemoglobinuria (18.4%), infection (46.6%) and thrombosis (16.5%), and 80.6% had pancytopenia. Patients were classified as classic paroxysmal nocturnal hemoglobinuria (10), paroxysmal nocturnal hemoglobinuria with aplastic anemia (39), and paroxysmal nocturnal hemoglobinuria with subclinical features and aplastic anemia (54). There were significant differences in terms of median age, size of clone, clinical symptoms, and peripheral blood cell counts between the three subcategories. The clone size in erythrocytes and granulocytes were respectively 0.04% (range: 0-18%) and 7.3% (range: 0.3-68.7%) in patients with subclinical features and aplastic anemia, 15.8% (range: 0-99.7%) and 63.0% (range: 1.7-99.8%) in patients with aplastic anemia alone, and 82.2% (range: 0-99.85%) and 98.0% (81.3-100.0%) in Classic disease. Statistical differences were identified for platelets (p-value=0.001), lactate dehydrogenase (p-value=0.002) and the clone size (p-value<0.001) in patients who suffered thrombotic events compared to those who did not. Overall survival was 81.7%, with patients with subclinical features and aplastic anemia having lower overall survival (76.5%). CONCLUSION: This retrospective review of 103 patients over an 11-year period represents the largest collection of paroxysmal nocturnal hemoglobinuria cases from a single center in Brazil. Flow cytometry showed that a larger clone was associated with classical symptoms and increased risk of thrombosis, even in patients with bone marrow failure, whereas a smaller clone was associated with bone marrow aplasia.