Study of association of CTLA4 gene variants to non-anterior uveitis.

This study was undertaken to investigate the possible genetic association of functional CTLA4 polymorphisms with susceptibility to non-anterior uveitis. Four hundred and seventeen patients with endogenous non-anterior uveitis and 1517 healthy controls of Spanish Caucasian origin were genotyped for the CTLA4 polymorphisms rs733618, rs5742909 and rs231775, using predesigned TaqMan(©) allele discrimination assays. PLINK software was used for the statistical analyses. No significant associations between the CTLA4 polymorphisms and susceptibility to global non-anterior uveitis were found. It was also the case when the potential association of these genetic variants with the anatomical localization of the disease, such as intermediate, posterior or panuveitis, was assessed. Our results do not support a relevant role of these CTLA4 polymorphisms in the non-anterior uveitis genetic predisposition.

Effects of Aralia mandshurica and Engelhardtia chrysolepis extracts on some parameters of lipid metabolism in women with nondiabetic obesity.

The effects of oral treatment with Aralox phytopreparation containing Aralia mandshurica (Araliaceae) and Engelhardtia chrysolepis (Juglandaceae) extracts on some parameters of lipid metabolism was studied in women with nondiabetic obesity receiving low-caloric diet. Our randomized placebo-controlled study comprising 32 volunteers showed that aralox treatment led to a decrease in total body weight and fat weight, reduced perilipin content in adipocytes and plasma triglyceride content, and stimulated activity of hormone-sensitive lipase.

[Hormones used as ergogenics: present state of the question]. / Hormonas utilizadas como agentes ergogénicos: situación actual del problema.

Sporting competition in our society has become the spectacle that mobilises and brings together the greatest number of people throughout the world, with the corresponding cultural and economic influence that this implies. As a result, the desire for athletic prowess has led sportspersons to undergo intense training programs and to consume substances that improve their performance, at times having recourse to doping techniques. At present, doping is the result of a combination of social, individual, physiological and cultural factors, which affect not only professional, but also amateur sportspeople. In order for the control and eradication of doping to be efficient, it is necessary to understand the problem and the substances that are most employed, amongst which special mention is merited by hormonal substances due to the complexity of detecting them and their possible repercussions on health.

Pediatric cardiac retransplantation: intermediate-term results.

BACKGROUND: Cardiac retransplantation (re-CTx) in children is a controversial therapy, yet it remains the best treatment option to recipients with failing grafts. Our objective was to determine the incidence of re-CTx in a large pediatric population of recipients and evaluate the outcome of such therapy. METHODS: Between November 1985 and November 1999, 347 children underwent cardiac transplantation at the Loma Linda University Medical Center. Of these, 32 children were listed for re-CTx. Ten patients died while waiting, and 22 recipients underwent re-CTx. Median age at re-CTx was 7.1 years (range, 52 days to 20.1 years). RESULTS: Indications for re-CTx were allograft vasculopathy (n = 16), primary graft failure (n = 5), and acute rejection (n = 1). Two patients with primary graft failure underwent retransplantation within 24 hours of the first transplantation procedure while on extracorporeal membrane oxygenation support. Median time interval to re-CTx for the others was 7.2 years (range, 32 days to 9.4 years). Operative mortality for all cardiac re-CTx procedures was 13.6%. Causes of hospital mortality were pulmonary hypertension with graft failure (n = 2) and multiorgan failure (n = 1). Median hospital stay after re-CTx was 14.1 days (range, 6 to 45 days). There was one late death from severe rejection. Actuarial survival at 3 years for re-CTx was 81.9% +/- 8.9% compared with 77.3% +/- 2.6% for primary cardiac transplantation recipients (p = 0.70). CONCLUSIONS: Elective re-CTx can be performed with acceptable mortality. Although the number of patients undergoing retransplantation in this report is small and their long-term outcome is unknown, the intermediate-term survival after re-CTx is similar to that of children undergoing primary cardiac transplantation.

[Retroperitoneal ganglioneuroma in childhood]. / Ganglioneuroma retroperitoneal en la infancia.

OBJECTIVE: An incidentally discovered retroperitoneal ganglioneuroma in a 4-year-old child is presented. METHODS: Ultrasonography and CT were performed. The surgical specimen was analyzed by macroscopic, histological and immunohistochemical techniques. RESULTS: US and CT localized a retroperitoneal mass independent from the left kidney and adrenal gland. The histological study showed a fascicular proliferation with myxoid and fibrillar areas mixed with mature ganglion cells. These cells were positive for neurofilament and neuron specific enolase. The patient had a favorable outcome with no signs of tumor recurrence. CONCLUSIONS: Ganglioneuroma is a rare, completely mature tumor that has to be differentiated from neuroblastoma.

Repair of traumatic aortic rupture: a 25-year experience.

BACKGROUND: Surgical management of traumatic aortic rupture (TAR) is controversial, specifically whether distal aortic perfusion modifies the outcome. HYPOTHESIS: The outcome of patients who undergo repair of TAR is not dependent on the technique of repair. DESIGN: Retrospective review. SETTING: Tertiary care teaching hospital, level I regional trauma center. PATIENTS: One hundred fifteen victims (aged 5-81 years) of blunt chest trauma with aortic tear, presenting between January 1, 1974, and June 30, 1999. METHODS: Medical records were reviewed for prehospital and emergency department data, operative findings, and outcome. Statistical comparison was made using a paired 2-tailed t test. INTERVENTION: Surgical repair of TAR with (group 1) or without (group 2) distal aortic perfusion. RESULTS: Thirty-two patients in group 1 had TAR repair using active bypass (n = 18) or Gott shunt (n = 14). The clamp-and-sew technique was used in 83 patients (group 2). Primary repair was possible in 14 patients (44%) in group 1 and 69 patients (83%) in group 2. The average aortic cross-clamp time was 48 minutes for group 1 (range, 25-113 minutes) and 20 minutes for group 2 (range, 5-40 minutes) (P<.03). There was no significant difference in hospital mortality (6 [18.7%] of 32 vs 15 [18.1%] of 83) or the incidence of paraplegia (2 [6%] of 32 vs 5 [6%] of 83) between groups 1 and 2. During the last 15 years, 78 patients (73 in group 2) had repair of TAR with an operative mortality rate of 19.2%. CONCLUSIONS: Acute TAR remains a highly lethal injury with no change in prognosis during the last 2(1/2) decades. Repair of TAR using simple aortic cross-clamping alone is feasible in the majority of patients without increased mortality or spinal cord injury.

[Intestinal tuberculosis, a difficult suspected diagnosis]. / Tuberculosis intestinal, un difícil diagnóstico de presunción.

Intestinal tuberculosis (ITB) is an always difficult clinical diagnosis; we must keep in mind it in the diagnosis of patients with abdominal pain, even without concomitant lung involvement. Seven patients with ITB were revised. Five patients were male and two female, with a mean age of 45 years; all of them presented abdominal pain. Ileocecal region was involved in 71.4% of the cases. Only one patient showed old specific pulmonary lesions radiologically. Neoplasia was the most frequent clinical presumption. ITB diagnosis was made only in one case, as first possibility. Histopathological examination revealed caseous granulomas in all the cases, with acid-alcohol resistant bacilli in 71.4% of them. We want to underline the need of thinking about ITB, in the clinical evaluation of in specific abdominal pain, above all in immunosuppressed patients, and to emphasize the importance of histopathologic findings in the final diagnosis of this entity.

[An aggressive inguinal (parafunicular) angiomyxoma in a male patient]. / Angiomixoma agresivo inguinal (parafunicular) en paciente varón.

OBJECTIVE: To report a case of aggressive inguinal angiomyxoma in a male patient. METHODS: An 82-year-old male patient presented with a well-defined, 6 cm. parafunicular mass in the right groin. The mass was located adjacent to the spermatic cord and had been noted 8 years earlier. Patient evaluation included CT, ultrasound and immunohistochemical studies. RESULTS: The CT and US findings suggested lymph node enlargement. Microscopic analysis showed a myxoid tumor with partially infiltrating margins, vascular channels of small-sized vessels with thick walls occasionally with hyalinization and spindle-shaped or stellate mesenchymal cells with ill-defined margins without atypia or mitosis that were positive for vimentin and negative for actin, desmin, keratins, CD34 and protein S-100. No tumor recurrence or metastasis has been observed at 26-months' follow-up. CONCLUSIONS: To our knowledge, this is one of the few cases of inguinal angiomyxoma in male patients; 16 have been reported to date. This neoplasm appears to originate from pelvic soft tissue fibroblasts.

Two new cases of Cumming syndrome confirming autosomal recessive inheritance.

We report on two stillborn sisters with generalized hydrops, campomelia, cervical lymphocele, and polycystic dysplasia of kidney, liver, and pancreas. This syndrome conforms to that first described by Cumming et al. [Am. J. Med. Genet. 25:783-790, 1986]. This observation provides additional support for the notion that this syndrome has an autosomal recessive pattern of inheritance.

[An intimal sarcoma of the pulmonary artery. An immunohistochemical study]. / Sarcoma intimal de la arteria pulmonar. Estudio inmunohistoquímico.

Pulmonary artery intimal sarcomas tend to be presented with symptoms of pulmonary thromboembolism and grow regionally, with little capacity to metastasize. They probably originate from subendothelial cells, that become myofibroblasts. Knowledge of it is important to establish a presurgery diagnosis, with the possibility of a total resection, the only useful treatment until now. We report a case of a pulmonary artery primary sarcoma, in a 73 year old woman, admitted with hemoptysis and pleuritic chest pain, who died ten days after. Autopsy revealed an intraluminal mass at the pulmonary artery trunk, without regional nor distance involvement. Microscopic study showed a pleomorphic tumor with spindle and epithelioid cells, positive for actin, desmin and vimentin. All these data support the diagnosis of primary intimal sarcoma of the pulmonary artery. We want to emphasize the myogenic differentiation of the tumor, uncommon in previously reported cases.

[Inflammatory pseudotumor of the spleen. An old concept with many questions]. / Pseudotumor inflamatorio de bazo. Un viejo concepto con múltiples interrogantes.

Inflammatory pseudotumor of spleen is an infrequent benign condition. It is difficult to differentiate, on a clinical and radiological basis, from haematologic neoplasms, granulomatous diseases as sarcoidosis and splenic hamartoma. Sometimes can be an incidental finding. Two women, aged 72 years, are presented. On the first case the sympthons mi micked a malignant disease. The second one was an incidental finding in a routine study for cholecystitis. Histological and immunohistochemical study showed a polymorphic cellular population including plasma cell, lymphoid cells, histiocytes, eosinophils and spindle cells, showing a reactive benign character. Plasma cells presented light chains polyclonality. Lymphoid cells were mature and with T inmunophenotype. Spindle cells were focally positive for muscle spe-cific actin and vimentine. In the first case, ultraestructural study showed myofibroblast morphology on the stromal spindle cells. Like many other authors have already postulated, immunohistochemical and ultraestructural findings would corroborate the mesenchymal reactive and benign nature of this type of lesions.

[Alveolar rhabdomyosarcoma with massive infiltration of the bone marrow as its initial manifestation]. / Rabdomiosarcoma alveolar con infiltración masiva de medula ósea como manifestación inicial.

We report a case of alveolar rhabdomyosarcoma (AR) with massive infiltration of bone marrow at presentation, and initial diagnosis in bone marrow aspirate. A 35 year old man presented with a submandibular mass, and hematomas after mild traumatisms. Peripheral blood showed thrombocytopenia and a normocytic anaemia. Bone marrow film showed diffuse involvement by undifferentiated blasts with rhabdomyoblastic features. Subsequent biopsy of submandibular lymph node confirmed the diagnosis with positivity for specific muscle actin and desmin, and negativity for lymphoid markers. Initial presentation of AR with extensive bone marrow involvement is extremely rare, and it could lead to wrong diagnosis and treatment of acute leukaemia, with the serious consequences that this would have. Immunohistochemical study and morphologic differential features can be of great diagnostic help.

[Extramedullary anaplastic plasmacytoma]. / Plasmocitoma anaplásico extramedular.

A case of extramedullary plasmacytoma of the maxillary sinus, locally aggressive, in a 65 years old man is presented. Clinical diagnosis of adenocarcinoma was suspected but the pathological study showed an anaplastic morphology, with little plasmacytic differentiation and lack of stain with cytokeratins and epithelial membrane antigen (EMA), immunohistochemical marker of plasmatic cells, among others. Definitive diagnosis was based on light chain restriction and lack of multiple myeloma.

Monoamine and iron-related toxicity: from "serotonin-binding proteins" to lipid peroxidation and apoptosis in PC12 cells.

1. Monoamines do not form coordination bonds with a preformed iron-serotonin-binding protein (SBP) complex, as initially believed. Instead, metals oxidize the monoamines either directly (manganese, copper) or by oxygen free radical formation (iron), the oxidation products bind covalently to SBP and the conjugates are able to undergo redox cycling. These interactions are denoted as a "molecular oxidative mechanism." 2. Dopamine in combination with iron induces lipid peroxidation and apoptosis in PC12 cells by a stress oxidative-Ca2+ independent mechanism. 3. Dopamine-iron cytotoxicity may have relevance to an understanding of the mechanism by which dopaminergic neurons are eroded in some neurodegenerative disorders.