Off-Pump coronary revascularization using bilateral internal thoracic arteries in a patient with paroxysmal nocturnal hemoglobinuria: a case report

Abstract Paroxysmal nocturnal hemoglobinuria (PNH) is an ultra-orphan disease. We report the first case in the literature of Off-Pump Coronary Revascularization Using Bilateral Internal Thoracic Arteries in a patient with paroxysmal nocturnal hemoglobinuria. A 36-year-old man came to the emergency department with acute non-ST elevation myocardial infarction (NSTEMI). He presented paroxysmal nocturnal hemoglobinuria diagnosed in 2016. Coronary angiography revealed tripple vessel disease. The conduits used for coronary revascularization were both internal thoracic arteries (left ITA-right ITA [LITA-RITA]). We consider that off-pump coronary artery bypass grafting (OPCABG) using Bilateral Internal Thoracic Arteries (BITA) can be safely performed with low in-hospital mortality and complications rates, even in patient with PNH.

Renal involvement in paroxysmal nocturnal haemoglobinuria: a brief review of the literature

SUMMARY INTRODUCTION: Paroxysmal Nocturnal Haemoglobinuria (PNH) is an acquired genetic disorder characterized by complement-mediated haemolysis, thrombosis and variable cytopenias. Renal involvement may occur and causes significant morbidity to these patients. OBJECTIVE: To review the literature about pathophysiology and provide recommendations on diagnosis and management of renal involvement in PNH. METHODS: Online research in the Medline database with compilation of the most relevant 26 studies found. RESULTS: PNH may present with acute kidney injury caused by massive haemolysis, which is usually very severe. In the chronic setting, PNH may develop insidious decline in renal function caused by tubular deposits of hemosiderin, renal micro-infarcts and interstitial fibrosis. Although hematopoietic stem cell transplantation remains the only curative treatment for PNH, the drug Eculizumab, a humanized anti-C5 monoclonal antibody is capable of improving renal function, among other outcomes, by inhibiting C5 cleavage with the subsequent inhibition of the terminal complement pathway which would ultimately give rise to the assembly of the membrane attack complex. CONCLUSION: There is a lack of information in literature regarding renal involvement in PNH, albeit it is possible to state that the pathophysiological mechanisms of acute and chronic impairment differ. Despite not being a curative therapy, Eculizumab is able to ease kidney lesions in these patients.

RESUMO INTRODUÇÃO: A hemoglobinúria paroxística noturna (HPN) é uma doença genética adquirida, caracterizada por hemólise mediada pelo sistema complemento, eventos trombóticos e citopenias variáveis. Envolvimento renal pode ocorrer, contribuindo com morbidade significativa nesses pacientes. OBJETIVO: Realização de revisão de literatura sobre o envolvimento renal na HPN. MÉTODOS: Pesquisa on-line na base de dados Medline, com compilação e análise dos 26 estudos encontrados de maior relevância. RESULTADOS: A HPN pode se apresentar com insuficiência renal aguda induzida por hemólise maciça, que geralmente tem apresentação grave. Em quadros crônicos, declínio insidioso da função renal pode ocorrer por depósitos tubulares de hemossiderina, microinfartos renais e fibrose intersticial. Apesar de o transplante de células-tronco hematopoiéticas permanecer como a única terapia curativa para a HPN, a droga Eculizumab é capaz de melhorar a função renal, entre outros desfechos, por meio da inibição de C5 e a subsequente ativação da cascata do complemento, que culminaria com a formação do complexo de ataque à membrana. CONCLUSÃO: Há poucas informações na literatura no que concerne ao envolvimento renal na HPN, apesar de ser possível estabelecer que os mecanismos fisiopatológicos das lesões agudas e crônicas são distintos. Apesar de não ser uma terapia curativa, Eculizumab é capaz de amenizar o comprometimento renal nesses pacientes.

Uso de cateter central de inserção periférica (PICC) em Unidades de Terapia Intensiva de Adultos / Use of peripheral insertion catheter (PICC) in adult Intensive Care Unit

O cateter central de inserção periférica (PICC) é um dispositivo vascular indicado para pacientes com diagnósticos e tratamentos variados. Apresenta baixos índices de infecção e complicações. Este trabalho descreve a utilização do PICC por uma paciente de Unidade de Terapia Intensiva de Adultos (UTI-A), desde sua passagem no intra-operatório no Centro Cirúrgico até a alta hospitalar. Demonstra como o PICC pode contribuir para minimizar riscos, beneficiar pacientes e ser uma opção de acesso venoso confiável. A avaliação do paciente, a indicação do cateter, sua manutenção e manipulação trazem uma nova dimensão para o papel profissional do enfermeiro...

The peripherally inserted central catheter (PICC) is a vein device designated for patients with severa I diagnoses and treatments. It presents low infection and complication rates. This work describes the use of PICC in a patient from the Adult Intensive Care Unit (AICU), since its insertion in the surgery at the operation room until the hospital discharge. It shows how PICC can contribute to minimize risks, benefit patients and be an option of reliable venous access. The patient's evaluation, the indication of the catheter, its maintenance and manipulation bring a new dimension to the nurse's professional role...

El catéter central de inserción periférica (PICC) es un dispositivo vascular indicado para pacientes con diagnósticos y tratamientos variados. Presenta bajos índices de infección y complicaciones. Este trabajo describe la utilización del PICC por una paciente de Ia Unidad de Terapia Intensiva de Adultos (UTI-A), desde su pasaje en el intra-operatorio dei Centro de cirugías hasta el alta dei hospital. Demuestra como el PICC puede contribuir para minimizar riesgos, beneficiar pacientes e ser una opción de acceso venoso confiable. La evaluación dei paciente, la indicación dei catéter, su manutención y manipulación traen una nueva dimensión para el papel profesional del enfermero...

Hemoglobinuria paroxística nocturna: de Strübing al Eculizumab / Paroxysmal nocturnal hemoglobinuria: from Strübing to Eculizumab

La hemoglobinuria paroxística nocturna (HPN) es un trastorno clonal severo y raro no maligno y adquirido de la célula madre hematopoyética. Es el único trastorno hemolítico adquirido causado por una anomalía de la membrana eritrocitaria como resultado de una mutación somática clonal de un gen, el fosfatidilinositol glucano clase A (PIG-A) situado en el brazo corto del cromosoma X. Se han identificado una serie de proteínas reguladoras del complemento, entre las que se destacan: el factor acelerador de la degradación (CD55) y el factor inhibidor de la lisis reactiva de la membrana (CD 59) deficientes en esta enfermedad. La HPN se clasifica en clásica, asociada a otro trastorno medular y en subclínica. Su diagnóstico se apoya en estudios hematológicos, bioquímicos, pruebas serológicas especiales, estudios eritroferrocinéticos e imagenológicos. La electroforesis de proteínas de membrana de alta resolución y la citometría de flujo multiparamétrica constituyen técnicas de elección para el diagnóstico. El tratamiento de la anemia, de los episodios trombóticos y de las infecciones constituyen los pilares terapéuticos básicos. Dentro de los agentes farmacológicos más utilizados se destacan: los esteroides. los andrógenos, la eritropoyetina recombinante humana y el factor estimulador de colonias granulocíticas. Recientemente, el anticuerpo monoclonal eculizumab ha aumentado la expectativa de vida de estos pacientes con una mejoría de su calidad de vida

Paroxysmal nocturnal hemoglobinuria (PNH) is a non malignant and acquired clonal disease of the hematopoietic stem cell. It is a severe and rare disease. It is the only acquired hemolytic disturbance that is caused for an erythrocyte membrane anomaly. It is a result of a somatic clonal mutation of one gene that is located in the short arm of X chromosome called phosphatidyl inositol glycan class A (PIG-A). Regulated complement proteins are identified: the decay accelerated factor (CD55) and the membrane inhibitor or reactive lysis (CD 59); the abnormal blood cells of PNH have deficiency of these two proteins. PNH is classified in: classic PNH, PNH associated with another bone marrow disturbance and PNH sub clinic. Diagnosis is obtained by hematological, biochemical, kinetics and imagenologics studies and serologic special tests. High resolution membrane protein electrophoresis and flow cytometry are the elective tests. Treatments for anemia, thrombotic episodes and infections are important in the management of these patients. Steroids, androgens, human recombinant erythropoietin and granulocytic colony stimulating factor (CSF-G) are the more used pharmacology agents. Recently, the monoclonal antibody eculizumab has increased the life expectation in these patients with a better quality of life

PNH revisited: Clinical profile, laboratory diagnosis and follow-up.

BACKGROUND: Paroxysmal nocturnal hemoglobinuria (PNH) is characterized by intravascular hemolysis, marrow failure, nocturnal hemoglobinuria and thrombophila. This acquired disease caused by a deficiency of glycosylphosphatidylinositol (GPI) anchored proteins on the hematopoietic cells is uncommon in the Indian population. MATERIALS AND METHODS: Data of patients diagnosed with PNH in the past 1 year were collected. Clinical data (age, gender, various presenting symptoms), treatment information and follow-up data were collected from medical records. Results of relevant diagnostic tests were documented i.e., urine analysis, Ham's test, sucrose lysis test and sephacryl gel card test (GCT) for CD55 and CD59. RESULTS: A total of 5 patients were diagnosed with PNH in the past 1 year. Presenting symptoms were hemolytic anemia (n=4) and bone marrow failure (n=1). A GCT detected CD59 deficiency in all erythrocytes in 4 patients and CD55 deficiency in 2 patients. A weak positive PNH test for CD59 was seen in 1 patient and a weak positive PNH test for CD55 was seen in 3 patients. All patients were negative by sucrose lysis test. Ham's test was positive in two cases. Patients were treated with prednisolone and/or androgen and 1 patient with aplastic anemia was also given antithymocyte globulin. A total of 4 patients responded with a partial recovery of hematopoiesis and 1 patient showed no recovery. None of the patients received a bone marrow transplant. CONCLUSION: The study highlights the diagnostic methods and treatment protocols undertaken to evaluate the PNH clone in a developing country where advanced methods like flowcytometry immunophenotyping (FCMI) and bone marrow transplants are not routinely available.

Paroxysmal nocturnal hemoglobinuria.

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare hemolytic disorder of acquired origin and is clinically manifested by chronic hemolysis, thromboses in various sites, and bone marrow failure. The disease is so rare that the delay in the diagnosis is not uncommon and this bears a tremendous impact on patient management. We present this case to draw attention to this uncommon cause of hemolytic anemia, which should be considered in any patient, of any age, who has signs of chronic hemolysis.

Superior sagittal sinus thrombosis and Budd-Chiari syndrome due to paroxysmal nocturnal hemoglobinuria managed with transjugular intrahepatic portosystemic shunt: a case report.

BACKGROUND: Paroxysmal nocturnal hemoglobinuria (PNH), caused by somatic mutation of hematopoietic cells, is associated with complement-mediated hemolysis and a hypercoagulable state. Thrombotic complications in this disease are associated with reduced survival. We report a patient with PNH complicated by intracranial venous thrombosis and Budd-Chiari syndrome, who was managed with transjugular intrahepatic portosystemic shunt. CASE PRESENTATION: A 26-year-old man presented with thrombosis of the superior sagittal and right sigmoid sinuses. Initial investigations did not reveal any underlying cause. Nine months later, he developed hepatic venous thrombosis. At this time, Ham test was positive. Flow cytometry confirmed the diagnosis of PNH. The patient was treated with transjugular intrahepatic portosystemic shunt; one episode of stent blockage one month later was managed successfully with balloon dilatation and restenting. CONCLUSION: PNH should be considered in patients with unexplained venous thrombosis. Thrombosis in these patients needs to be managed with prolonged anticoagulation. For Budd-Chiari syndrome in patients with underlying PNH, transjugular intrahepatic portosystemic shunt may be a good option but caution is needed to prevent stent occlusion.

Citologia vaginal a fresco na gravidez: correlação com a citologia corada pela técnica de Papanicolaou / Fresh wet mount in pregnancy: correlation with Pap smears

OBJETIVO: analisar o conteúdo vaginal utilizando o exame citológico a fresco na primeira consulta pré-natal em mulheres com ou sem queixas genitais e correlacionar os resultados com os encontrados na citologia corada pela técnica de Papanicolaou. A microscopia direta durante a gravidez deve ser valorizada e reconhecida como método propedêutico capaz de diagnosticar, de forma imediata, 90 por cento dos casos de vaginose bacteriana, candidose e tricomonose. MÉTODOS: estudo prospectivo em 216 gestantes, selecionadas em ambulatório de pré-natal no período de 30 de outubro de 2001 a 12 de novembro de 2002. Foram colhidas duas amostras do conteúdo existente no fundo de saco vaginal posterior e depositadas em lâminas de vidro para microscopia. Sobre a primeira e a segunda amostra eram colocadas uma gota de NaCl a 0,9 por cento e uma de KOH a 10 por cento, respectivamente. Adicionalmente, em todas as grávidas determinou-se o pH vaginal e realizaram-se os testes de produção das aminas com odores de pescado. O material era examinado ao microscópio em aumentos de 100 vezes, 400 vezes e excepcionalmente 1000 vezes. Foram realizados esfregaços cervicovaginais para citologia corada pelo método de Papanicolaou. A correlação entre os resultados dos métodos citológicos empregados foi realizada pelo cálculo do coeficiente kappa, que avalia a concordância para variáveis qualitativas. RESULTADOS: o encontro nos esfregaços a fresco de flora bacteriana normal foi de 51,8, representando o aspecto citológico mais observado e sem correspondência com os 3,7 por cento apurados na microscopia corada. No exame citológico direto foram observados 30,9 por cento de vaginose bacteriana e 7,9 por cento de candidose. Todavia, no Papanicolaou não foi encontrada tal equivalência, sendo as porcentagens de 0,7 e 24,3 por cento, respectivamente. A ausência de correlação no diagnóstico de colpite bacteriana inespecífica na microscopia direta (17,5 por cento) e corada (51,3 por cento) talvez deva-se ao subdiagnóstico de vaginose neste último método propedêutico. Os diagnósticos de tricomoníase observados em ambos os métodos citológicos (3,7 e 2,7 por cento) traduzem a baixa prevalência destes parasitas na gestação. O cálculo do índice kappa para avaliação da concordância entre os dois procedimentos citológicos nos diversos achados microbiológicos demonstrou baixa correlação nos diagnósticos da vaginose bacteriana e colpites bacterianas inespecíficas, bem como na identificação da flora...

Monosomy 7 in patients with aplastic anemia and paroxysmal nocturnal hemoglobinuria with evolution into acute myeloid leukemia.

We report two cases of Thai patients with aplastic anemia/paroxysmal nocturnal hemoglobinuria (AA/PNH) who subsequently developed acute myeloid leukemia (AML) at their terminal phase. Monosomy 7 was demonstrated upon karyotypic analysis of bone marrow in both cases at the time leukemia developed The first patient was a 25-year-old man diagnosed with AA at age 14, recovered from AA at age 15, developed PNH at age 21 and turned into AML at age 25. The second patient was a 27-year-old man diagnosed with PNH at age 22, developed severe AA at age 25 and turned into AML at age 27. This latter patient received anti-lymphocyte globulin when he developed severe AA but did not respond well whereas the first patient fully recovered from AA with anabolic hormone treatment. Time to diagnosis of AML in the patient who received immunosuppressive therapy was strikingly shorter than that who received conventional androgen therapy (2 years vs 11 years after AA, respectively). The presence of monosomy 7 in leukemic cells of both patients emphasizes its central role in the development of AML from AA/PNH. However, other factors such as choice of AA/PNH therapy and patients response may modulate the time to emergence of monosomy 7-carrying AML clone and frank leukemia. Further studies into the biologic and genetic mechanisms involved in the development of leukemic clone arising from AA/PNH should be explored.

Hemoglobinuria paroxistica nocturna / Paroxismal nocturnal hemoglobinuria

La hemoglobinuria paroxística nocturna es un desorden mielodisplásico producido por una sensibilidad anormal a factores del complemento. A largo plazo produce falla renal y se asocia a una sobrevida promedio de diez años, aparte de que se constituye en un factor predisponente de trombosis venosa de vasos intraabdominales principalmente. La manifestación en imágenes de resonancia magnética consiste en baja señal de la corteza renal en imágenes potenciadas en T2 de forma difusa, hallazgo que indica el cúmulo de hemosiderina en la región tubular renal. Se revisa la bibliografía disponible y se comparan diferentes hallazgos normales y anormales, a propósito de un caso

Transfusión del paciente con autoanticuerpos / Transfusion of the patient with auto-antibodies

La transfusión de sangre en pacientes con AHAI, al igual que transfusión de sangre a otros pacientes, debe realizarse con los mismos criterios de compatibilidad. La sangre a transfundirse debe ser del mismo tipo ABO y Rh y no debe tener antígenos correspondientes a la especificidad de aloanticuerpos CS que pudiera tener el paciente. En pacientes no transfundidos y sin historia de embarazo no es necesario investigar exhaustivamente la presencia de aloanticuerpos, ya que muy rara vez los tienen. En pacientes transfundidos o con historia de embarazos, la posibilidad de tener algún aloanticuerpo clínicamente significativo está en el orden de los 14 a 40 por ciento. En pacientes con AHAI por anticuerpo caliente se recomienda investigar esta posibilidad primero mediante las técnicas de autoabsorción. En lo posible se recomienda obtener suficiente sangre (50-100 ml) y guardarla para posibles autoabsorciones futuras. Una vez que el paciente recibe sangre, la autoabsorción deja de ser confiable y la mejor técnica resulta la absorción diferencial. En pacientes con el síndrome de aglutininas frías la gran mayoría de los casos se resuelven mediante la técnica de precalentamiento a 37ºC en solución salina. Una vez seleccionada la sangre negativa para los antígenos correspondientes a los aloanticuerpos CS se procedería a la transfusión de la misma, en cantidades mínimas necesarias según la clínica del pacientes. Todo esto con el objeto de aliviar/prevenir posibles disfunciones de órganos vitales secundarias a una insuficiencia en el transporte de oxígeno.

Cerebral sinovenous thrombosis in a patient with paroxysmal nocturnal haemoglobinuria

Paroxysmal nocturnal haemoglobinuria may be complicated by life-threatening thrombosis. A patient who presented with the classical clinical picture of cerebral sinus thrombosis is described. Management of the condition is discussed.

Paroxysmal nocturnal hemoglobinuria with hepatic vein thrombosis presenting as hepatic encephalopathy.

We present a patient with paroxysmal nocturnal hemoglobinuria with diffuse hepatic central vein thrombosis who presented with encephalopathy and recovered from the hepatic manifestations with antihepatic coma measures alone.

Hemoglobinuria paroxística nocturna: fisiopatalogía y manejo terapéutico / Hemoglobinuria paroxysmal nocturnal: physioapathology and therapeutics handling

Se hace la revisión de la fisiopatología y el manejo terapéutico de los pacientes con hemoglobinuria paroxística nocturna (HPN), de acuerdo con la información bibliográfica que se menciona; y se refiere al hallazgo de siete casos, dos mujeres y cinco hombres, entre 26 y 76 años de edad, con HPN y sintomatología que iba desde moderada anemia hemolítica crónica y orina acolúrica, hasta severa pancitopenia, con sangramientos, infecciones y requerimiento de transfusiones, antibióticos, corticoides, andrógenos y otras medidas de soporte. La mayoría presentó agrandamiento del bazo y del hígado, especialmente durante las crisis hemolíticas

Traço falcêmico associado à hemoglobinúria noturna paroxística / Sickling trace associate with paroxysmal nocturnal hemoglobinuria

Os autores apresentam um caso de falcemia heterozigota (Hb AS) associada a hemoglobinúria noturna paroxística (HNP). Várias patologias podem estar associadas com HNP; nesses ultimos cinco anos a literatura científica relatou apenas um caso de associaçäo entre HNP e hemoglobinopatia - a Hb SS. O caso estudado apresentou anemia grave, pancitopenia, hemoglobinúria e medula hipocelular que mostrou-se responsiva ao ácido fólico. O quadro laboratorial se destaca pela anemia grave (Hb: 5,2 g/dl), hipoferremia, testes de Ham e da glicose positivos, e presença de Hb AS