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.

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.

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.

[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.

[Pentoxifylline is not useful in the prevention of toxicity associated with bone marrow transplantation]. / La pentoxifilina no es útil en la prevención de la toxicidad asociada al trasplante de médula ósea.

BACKGROUND: To evaluate the possible beneficial effect of pentoxifylline (PTX) on both the decrease of toxicity related to bone marrow transplantation (BMT) and the acceleration of the hematopoietic graft. METHODS: Twenty consecutive patients treated with BMT received pentoxifylline (400 mg/6 hours, orally) up to day +50 to prevent toxicity derived from BMT. A previous group of 29 consecutive patients transplanted in the same center were used as controls. The different clinical toxicities (mucositis, kidney failure, hepatic venocclusive disease, graft versus host disease, number of days with fever, day of hospital discharge and survival at day +50), the time elapsed until the hematopoietic graft and the levels of tumoral necrosis factor alpha were evaluated. RESULTS: No significant differences were observed in any of the parameters studied in the two groups of patients. CONCLUSIONS: Treatment with pentoxifylline does not prevent the toxicity derived from BMT or accelerate the hematopoietic grafting.

[Necrotizing myelopathy associated with neoplasia. A clinico-pathological study of 2 cases and a review of the literature]. / Mielopatía necrosante asociada a neoplasia. Estudio clínico-patológico de dos casos y revisión de la literatura.

Two cases of necrotic myelopathy are presented. This is a very rare paraneoplasic syndrome. One patient had clear cell renal carcinoma and other had lymphatic metastasis of malignant melanoma without filiation of the primary tumor. The complete spinal study (MNR, CT, myelography) proved normal. Diagnosis is possible when all other causes of spinal disease have been discarded. Nowadays, it is possible to diagnose this disease premortem. The international literature reviewed showed 31 cases published since 1903, associated mainly to malignant diseases such as lymphomas, lung cancer, renal carcinoma, breast cancer, leukemias, etc. The differential diagnosis appears in the comments, as well as the presentation and evolution of the cases described up until now.

[Bronchioloalveolar carcinoma]. / Carcinoma bronquioloalveolar.

We studied 14 patients with bronchioalveolar carcinoma during the last 14 years. In all cases we evaluated the clinical history, the radiologic presentation, and the diagnostic procedures. The mean age of presentation of the illness was 58.5 years. The incidence of smokers was 35%. The time interval from clinical manifestations to diagnosis was 3,3 months. The most frequent symptoms were cough (57%) and dyspnea (43%). The 21% of the cases were asymptomatic. Two patients (14%) had copious amounts of sputum (bronchorrhea). The most revealing radiologic pattern was of alveolar type (43%), followed by multiple pulmonary nodules (29%) and solitary pulmonary nodule pattern (21%). The diagnosis was based in specimen obtained from transbronchial biopsy, bronchoalveolar lavage, transthoracic aspiration biopsy, thoracotomy, or during the necropsy study. Transbronchial biopsy was a sensitive diagnostic method. The 64% of patients were in a extent disease when the diagnosis was established.

Study of antiphospholipid antibodies in a patient with Sneddon's syndrome and her family.

BACKGROUND: Sneddon's syndrome is a disease characterized by livedo reticularis and cerebrovascular lesions, with a hereditary transmission and unknown etiopathogenesis. A number of reports have documented a link between antiphospholipid antibodies and Sneddon's syndrome with different results. The present work was designed to sequentially study antiphospholipid antibodies in a patient with Sneddon's syndrome and her family and their potential role in thrombotic events. We used cardiolipin and a mixture of phospholipids from rabbit brain as antigen for antiphospholipid assays to determine diagnostic usefulness. CASE DESCRIPTIONS: A patient with Sneddon's syndrome and 12 available family members belonging to three generations were evaluated to determine the presence of antiphospholipid antibodies (lupus anticoagulant and anticardiolipin antibodies) during vascular thrombotic events and asymptomatic periods. CONCLUSIONS: Our results support a temporal relation between thrombotic events in Sneddon's syndrome and lupus anticoagulant; anticardiolipin antibodies remained invariable. Our index case patient and her father could be diagnosed as having primary antiphospholipid antibody syndrome. Aspirin was not effective in preventing thrombosis. After the onset of oral anticoagulant therapy, no recurrences were seen. The use of a mixture of phospholipids as antigen could present some advantages in serological studies performed in antiphospholipid syndromes.

Increased levels of plasma von Willebrand factor in migraine crisis.

INTRODUCTION: To evaluate the participation of the vessel wall in the pathogenesis of migraine attack, we measured the plasma levels of von Willebrand factor (vWF), a protein secreted from the endothelial cells. MATERIAL & METHODS: 17 patients suffering from migraine without aura and 25 healthy volunteers were studied. von Willebrand factor and platelet aggregation tests were studied by conventional methods. RESULTS: The levels of vWF:antigen increased from 72.4 +/- 29 U/dl in the intercrisis to 130.2 +/- 75 U/dl during the attack (p < 0.01). We did not detect difference in the platelet aggregability in both phases. Plasma vWF activity measured as ristocetin cofactor (vWF:RCo) was similar in intercrisis and crisis (100.6 +/- 31 U/dl vs 94.5 +/- 44 U/dl). CONCLUSIONS: There is a plasma release of vWF molecules during the migraine crisis. This feature is not platelet dependent and is probably a consequence of endothelial stress.

[Homogeneous clinical behavior of a group of cutaneous B-cell lymphomas]. / Comportamiento clínico homogéneo de un grupo de linfomas cutáneos de células B.

PURPOSE: To assess the non-cutaneous involvement in primary B-cell non-Hodgkin's lymphoma (NHL) of the skin. PATIENTS AND METHODS: Data from 45 patients with B-cell NHL of the skin were retrospectively analysed. The patients were diagnosed on histologic and immunocytochemical grounds between June 1977 and July 1993, and 14 cases were selected for their exclusively cutaneous initial involvement. Initial treatment, response to therapy, disease-free survival characteristics of relapse and therapeutic sequence were evaluated in every case. RESULTS: Cutaneous involvement presented as nodules or patches, on a single location, in 12 cases, or disseminated, in 2 others. No prognostic factor could be identified, and complete remission was attained in all cases. Cutaneous relapse was seen in 7 patients after 4 to 108 months since diagnosis. Extracutaneous dissemination was not seen in any case, and 13 patients are alive and disease-free. A 90 year-old woman died of toxic complications. CONCLUSIONS: The clinical facts reported here confirm the not too aggressive behaviour of certain B-cell cutaneous NHL, probably related with their origin on the skin itself.

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.

[Pulmonary mucormycosis in leukemic patients. Apropos of 2 cases]. / Mucormicosis pulmonar en pacientes leucémicos. A propósito de dos casos.

Mucormycosis is a rare fungal infection that has been described mainly in oncologic and diabetic patients. We here report the cases of two leukaemic patients in whom pulmonary mucormycosis was diagnosed. Prompt diagnosis, therapy with amphotericin B and surgery when possible, are the cornerstones in the treatment of this fungal infection. Although infrequent, this infection must be suspected in oncohaematological patients with lung infiltrates.

[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.

[Choroidal metastases as the form of presentation of 2 bronchiolo-alveolar carcinomas]. / Metástasis coroideas como forma de presentación de dos carcinomas bronquioloalveolares.

We report here two cases presenting with visual symptoms secondary to choroidal metastases, without any other remarkable systemic symptom. After an exhaustive investigation in both patients the diagnosis was obtained of bronchoalveolar carcinoma as primary tumor responsible for such lesions. Bronchoalveolar carcinoma is a type of pulmonary adenocarcinoma which rarely begins with clinical symptoms attributable to metastases and even rarer of choroidal location. The presence of such choroidal lesions are usually associated with visual clinical symptoms and they are a diagnostic challenge when manifested as the presenting symptoms. Therapy is directed to the primary tumor usually associated with palliative radiotherapy of choroidal metastases. Their presence implies a poor survival rate.

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.

Amylase-producing Bence Jones multiple myeloma with pancreatitis-like symptoms.

Amylase-producing tumors are mainly adenocarcinomas and, in rare instances, multiple myelomas. We describe here a first case of amylase-producing Bence Jones type myeloma with pancreatitis-like symptoms and the second in a Caucasian patient. The finding of salivary-type hyperamylasemia in a 72-year-old female with a possible pancreatitis made us suspect the diagnosis. Amylase production was observed in bone marrow cultures in which 96% of cellularity was composed of plasmablasts. Serum amylase level decreased when chemotherapy was given.