Cutaneous involvement in an 8-year-old boy with Ras-associated autoimmune leucoproliferative disorder (RALD).

Ras-associated autoimmune leucoproliferative disorder (RALD) is a nonmalignant syndrome associated with somatic KRAS mutations. We report a patient with RALD and cutaneous lesions, the first such case reported, to our knowledge. An 8-year-old boy presented with erythematous plaques on his face and body, along with lymphadenopathies and spleen enlargement without systemic symptoms. An increased number of monocytes were found in skin biopsy, peripheral blood and bone marrow (BM). Juvenile myelomonocytic leukaemia (JMML) was suspected. Genetic study using peripheral blood showed no mutations in the KRAS, PTPN11, NRAS, CBL or BCR-ABL genes, but bone marrow analysis revealed a mutation (p-G12S/c.34 G>A) in the KRAS gene. The karyotype was normal. No KRAS mutations were found using molecular analysis of saliva. The diagnosis of RALD was proposed. The differential diagnosis between RALD and JMML is challenging because there are no established criteria to differentiate between them. The clinical course of RALD is uncertain, so long-term follow-up is recommended.

Rapamicina para el tratamiento del síndrome del nevus azul en tetina de goma / Rapamycin in the Treatment of Blue Rubber Bleb Nevus Syndrome

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[Traumatic rupture of tricuspid valve: report of 3 cases]. / Rotura traumática de la válvula tricúspide: presentación de tres casos.

Tricuspide valve lesions due to non-penetrating trauma are rare and their diagnosis is difficult. Nevertheless, over 100 cases of post-traumatic valve regurgitation have been described in the last 35 years. We present 3 such cases diagnosed and operated at our center in the last 8 years.

[The unequal clinical profile, quality of life and hospital mortality in patients undergoing aortocoronary bypass in the public and private centers of Catalonia. The CIRCORCA Study]. / Desigual perfil clínico, calidad de vida y mortalidad hospitalaria en pacientes operados de injerto aortocoronario en centros públicos y privados de Cataluña. El estudio CIRCORCA.

INTRODUCTION AND AIMS: The influence of the type of health care funding and management of hospital centres on hospital mortality in coronary artery bypass surgery (CABG) has not been analyzed in detail. We therefore assessed clinical and quality of life preoperative profiles and in-hospital mortality in public and private patients undergoing coronary bypass surgery in Catalonia. METHODS: Clinical questionnaires, Duke Activity Status Index (DASI) and SF-36 were preoperatively administered to all patients undergoing first coronary bypass surgery without associated procedures in Catalonia between November 1996-June 1997. In-hospital morbidity and mortality were recorded. RESULTS: Predictors of in-hospital death, including DASI, SF-36 and comorbidity scores, were significantly worse in public than in private patients. In-hospital mortality rate was more than ten times greater in public than in private patients (8.2% vs 0.7%; p < 0.001). Multivariate analysis identified private funding of health care, among others, as an independent predictor of in-hospital survival. Non evidence-based indications for surgery were significantly more common in private than in public patients (6% vs 0.7%, p < 0.001). CONCLUSIONS: a) In catalonia, the risk profile of public patients undergoing coronary bypass surgery was significantly higher than that of private patients, accounting, at least in part, for a remarkable mortality difference; b) non evidence-based indications for surgery were more common in private than in public patients; c) these unequal patterns raise questions about the adequacy of care and referral patterns in both private and public sectors.

Pulmonary gas exchange in severe chronic asthma. Response to 100% oxygen and salbutamol.

Ventilation-perfusion (VA/Q) inequality has been evaluated using the multiple inert gas technique in nine nonsmoking patients (mean +/- SD, age 56 +/- 10 yr) with stable, severe, chronic asthma (partially reversible airway obstruction; baseline FEV1, 39 +/- 10% predicted) before and during 100% O2 breathing and then 15 min after three puffs (300 micrograms) of inhaled salbutamol. The aim of this study was to investigate whether this type of asthma was associated with a different pattern of VA/Q inequality from that observed in acute episodes and in particular to determine whether the VA/Q pattern was fixed or could be altered by bronchodilator agents or O2 breathing. The predominant pattern of VA/Q distribution was broad and unimodal but without shunt (VA/Q = 0) or low VA/Q areas (VA/Q less than 0.1 to greater than 0.005). The amount of VA/Q inequality as assessed by the dispersion of the distribution of pulmonary bloodflow (log SDQ) was not great (log SDQ, 0.77 +/- 0.09), and no correlation was found with the degree of airway obstruction, PaO2 or AaPO2. During 100% O2 breathing, VA/Q inequality worsened (from log SDQ of 0.77 +/- 0.09 to 1.11 +/- 0.21, p = 0.01) with an increase in the perfusion of low VA/Q units (from 0.43 +/- 0.66% to 6.3 +/- 6.5%, p = 0.02) but still no development of shunt. This suggests the presence of hypoxic pulmonary vasoconstriction breathing air, possibly contributing to the preservation of VA/Q relationships.(ABSTRACT TRUNCATED AT 250 WORDS)

Effect of three different bronchodilators during an exacerbation of chronic obstructive pulmonary disease.

This study evaluates the effect of three different bronchodilators (beta 2-adrenergic, anticholinergic and methylxanthine) alone and in randomized sequence, during an exacerbation in thirteen patients with chronic obstructive pulmonary disease. Dose-response curves were obtained for inhaled salbutamol and inhaled ipratropium bromide. The bronchodilator effect of a perfusion of aminophylline was also assessed. When a plateau of bronchodilatation was achieved with one agent, one dose of a second bronchodilator was administered to see whether additional bronchodilation could be achieved. The increments in FEV1 and FVC were similar with the three agents. The addition of a second bronchodilator did not result in significant increments in most of the patients. In at least half of the patients the doses of salbutamol and ipratropium that produced the maximal bronchodilatation were twice that currently employed.

Serial relationships between ventilation-perfusion inequality and spirometry in acute severe asthma requiring hospitalization.

Patterns of VA/Q distribution and their relationship to spirometric indices were studied in 10 patients with acute severe asthma requiring hospitalization (7 women and 3 men 41.0 +/- 5.6 yr of age, mean +/- SEM) on admission and during subsequent recovery. On admission, all patients received the standard therapeutic regimen for our hospital. Spirometry and essentially noninvasive multiple inert gas elimination measurements were obtained serially, approximately once every day, whereas conventional arterial blood gases were determined every 3 days. On admission, all patients showed severe air-flow obstruction (FEV1/FVC% = 34.1 +/- 4.3%) and moderate to severe hypoxemia without CO2 retention (PaO2 = 50.5 +/- 2.6 mm Hg; PaCO2 = 37.1 +/- 2.4 mm Hg; AaPO2 = 53.7 +/- 3.0 mm Hg). Nine of the 10 patients showed bimodal blood flow distributions (dispersion of blood flow distribution, log SD Q = 1.34 +/- 0.11; normal range, 0.3 to 0.6) with only small amounts of shunt (1.09 +/- 0.8%). However, no significant interindividual correlations were observed between maximal expiratory flow rates (FEV1 and FEF25(-75) and log SD Q (r2 = 0.14 and 0.006, respectively). This lack of correlation persisted throughout hospitalization. Despite both clinical and spirometric improvement in all patients, there was simultaneous improvement in VA/Q matching in only one patient. Statistically significant negative correlations between maximal expiratory flow rates and gas exchange did develop toward the end of the study (Weeks 3 and 4 after discharge) when maximal recovery of physiologic changes associated with the acute asthma attack was achieved.(ABSTRACT TRUNCATED AT 250 WORDS)