Síndrome de Hurler-Scheie: seguimiento de la terapia de recambio enzimático durante dos años / No disponible

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Imagen pulmonar cavitada / A lung image with cavitation

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Methylene blue-photoinactivated plasma vs. fresh-frozen plasma as replacement fluid for plasma exchange in thrombotic thrombocytopenic purpura.

BACKGROUND AND OBJECTIVES: Plasma exchange with fresh-frozen plasma (FFP) is the treatment of choice in thrombotic thrombocytopenic purpura (TTP). Methylene blue-photoinactivated plasma (MBPIP) has been proposed as a safer alternative to FFP, but its effectiveness in the treatment of TTP is not well established. The purpose of this study was to investigate whether MBPIP is as effective as FFP in the treatment of TTP by plasma exchange. MATERIALS AND METHODS: A retrospective analysis was carried out of 56 TTP episodes, occurring between 1990 and 2003, which had been treated by plasma exchange. MBPIP was used for fluid replacement in 27 episodes and FFP in 29. The effect of plasma (MBPIP or FFP) on treatment outcomes was analysed by multivariate logistic regression. RESULTS: Compared to patients treated with FFP, those receiving MBPIP had an increased risk of dying from progressive TTP [adjusted odds ratio (OR) = 31; 95% confidence interval (CI): 1.2 to > 100], a greater number of recurrences while on plasma exchange therapy (OR = 4.6; 95% CI: 1.2-17), and a lower probability of attaining a sustained remission within 9 days of starting plasma exchange (OR = 5.2; 95% CI: 1.3-20). CONCLUSIONS: MBPIP seems to be less effective than FFP in the treatment of TTP. It is therefore prudent to avoid MBPIP until therapeutic equivalency to FFP has been established by randomized, controlled trials.

Triplication of 1q in Fanconi anemia.

We report herein a 38-year-old male patient with Fanconi anemia but with few phenotypic manifestations--short stature, sterility, and hypoplasic anemia with several years of evolution-who developed a myelodysplastic syndrome (MDS). Bone marrow karyotype showed long arm triplication of chromosome 1 (q12-21q31-q32), and two markers add(11)(p15) and add(21)(q22) which had extra material of chromosome 3 besides the normal chromosome 3 pair. Peripheral blood showed chromosome instability; SCE was normal. Both the patient and his family showed a high prevalence of malignant diseases. 1q duplication and, in a few cases, triplication of 1q has been related to Fanconi anemia, being of unknown significance.

Radiografía simple de tórax

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An unusual complication of appendicitis in childhood.

Mesenteric venous thrombosis has not been reported after an appendicectomy in the pediatric literature. We report on a special and very unusual complication in a girl who presented mesenteric venous thrombosis (MVT) following an appendicectomy for gangrenous appendicitis. The early diagnosis of this entity is vital in order to start the anticoagulation treatment which could allow preservation of bowel viability. The therapy should be continued for a long time to decrease the risk of relapse.

Mesenteric venous thrombosis after appendicectomy in a child: clinical case and review of the literature.

Mesenteric venous thrombosis (MVT) after appendicectomy has not been reported in the pediatric literature. This complication is associated with significant morbidity and mortality rates in adults. The report of this case attempts to analyze the features found in an appendicectomized child documented by radiological examination and surgery before and after starting heparin therapy. Anticoagulation treatment should be started as soon as possible and continued for a long time to decrease the risk of relapse.

Long-term disappearance of previous chromosomal abnormalities in myelodysplastic syndromes treated with low dose cytosine arabinoside and granulocyte/macrophage-colony stimulating factor.

Most therapies for elderly patients with myelodysplastic syndromes offer few short responses and little improvement in survival. We describe two patients who, after several cycles of low dose cytosine arabinoside and GM-CSF, achieved and maintained complete remission and became transfusion independent. Previous chromosomal abnormalities also disappeared and karyotype remains normal.

[Testicular granulocytic sarcoma as a form of relapse in a patient with acute megakaryoblastic leukemia]. / Sarcoma granulocítico testicular como forma de recaída en un paciente con leucemia aguda megacarioblástica.

Granulocytic sarcoma (GS) is a rare extramedullary tumor composed of myeloblasts and other granulocytic precursors. GS is mostly associated with myeloproliferative disorders, myelodysplastic syndromes and acute myeloid leukaemia. These tumors arise in the absence of leukaemia, at its initial diagnosis or at the time of recurrence. The most common sites of involvement are bone, skin, soft tissue and lymph node. Reports of GS in testis are very rare. We report an unusual case of GS in a patient with megakaryoblastic leukaemia arising in the left testis after four months in complete remission attained with low doses of Ara-C and granulomonocytic stimulating factor.

[Trousseau's syndrome in lung adenocarcinoma. The rare appearance of venous gangrene]. / Síndrome de Trousseau en adenocarcinoma de pulmón. La infrecuente aparición de la gangrena venosa.

Trousseau's syndrome includes a wide range of coagulation disorders, migratory thrombotic phenomena being the main associated entities. Treatment is difficult and venous gangrene constitutes a rare but deadly final stage that is particularly painful for the patient. The outlook after treatment is poor.