Showing papers by "Hospital Universitario La Paz published in 2002"

Prediction of tolerance on the basis of quantification of egg white-specific IgE antibodies in children with egg allergy

Abstract: Background: It is thought that the natural evolution of food allergy has a good tolerance prognosis. However, there are few follow-up studies that determine the exact probability of tolerance to a given food or that analyze prognostic factors that can help us to understand the evolution of a child who begins life with a food allergy. Objective: We sought to determine the likelihood that children younger than 2 years of age with allergy to egg would eventually have tolerance to it and to analyze several prognostic predictors using egg white-specific IgE level as the main variable. Methods: We performed a prospective study of 58 children younger than 2 years of age with egg allergy, who were studied periodically until tolerance developed or until the end of the study. During the follow-up period, open challenge tests were carried out according to previously established criteria to verify tolerance to egg. Factors such as egg white-specific IgE level, serum total IgE level, symptoms after egg ingestion, size of skin prick test reactions to egg white, atopic dermatitis, and sex were analyzed as prognostic markers. Kaplan-Meier survival curves were used to calculate cumulative tolerance probability. Predictor influence and relative prognostic importance were estimated with the Cox proportional regression model. Results: The median time from the appearance of the first symptoms to tolerance was 35 months. Cumulative tolerance probability was 16% at 12 months of follow-up, 28% at 24 months, 52% at 36 months, 57% at 48 months, and 66% at 60 months. The relative weight of prognostic factors, expressed as the hazard ratio, was 50.95 for symptoms and 3.74 for the size of skin prick test reactions, with both being independent effects. The hazard ratio was 1.173 for every 0.1-unit decrease in the concentration log (decimal logarithm) of specific IgE level, with this effect being associated with tolerance only in children with cutaneous symptoms. Conclusions: Half of the children younger than 2 years of age with egg allergy will tolerate the food at 35 months of follow-up, and the proportion could be 66% after 5 years. At that age, the main predictors were the symptoms experienced after egg ingestion, followed by the size of skin prick test reactions. In addition, the specific IgE antibody level is an important prognostic marker in children who only had cutaneous symptoms. (J Allergy Clin Immunol 2002;110:304-9.)

Structural and functional characterization of factor H mutations associated with atypical hemolytic uremic syndrome

Abstract: Genetic studies have demonstrated the involvement of the complement regulator factor H in nondiarrheal, nonverocytotoxin (i.e., atypical) cases of hemolytic uremic syndrome. Different factor H mutations have been identified in 10%–30% of patients with atypical hemolytic uremic syndrome (aHUS), and most of these mutations alter single amino acids in the C-terminal region of factor H. Although these mutations are considered to be responsible for the disease, the precise role that factor H plays in the pathogenesis of aHUS is unknown. We report here the structural and functional characterization of three different factor H proteins purified from the plasma of patients with aHUS who carry the factor H mutations W1183L, V1197A, or R1210C. Structural anomalies in factor H were found only in R1210C carriers; these individuals show, in their plasma, a characteristic high-molecular-weight factor H protein that results from the covalent interaction between factor H and human serum albumin. Most important, all three aHUS-associated factor H proteins have a normal cofactor activity in the proteolysis of fluid-phase C3b by factor I but show very low binding to surface-bound C3b. This functional impairment was also demonstrated in recombinant mutant factor H proteins expressed in COS7 cells. These data support the hypothesis that patients with aHUS carry a specific dysfunction in the protection of cellular surfaces from complement activation, offering new possibilities to improve diagnosis and develop appropriate therapies.

Abnormalities of the APC/β-catenin pathway in endometrial cancer

Abstract: The activation of the APC/β-catenin signalling pathway due to β-catenin mutations has been implicated in the development of a subset of endometrial carcinomas (ECs). However, up to 25% of ECs have β-catenin nuclear accumulation without evidence of β-catenin mutations, suggesting alterations of other molecules that can modulate the Wnt pathway, such as APC, γ-catenin, AXIN1 and AXIN2. We investigated the expression pattern of β- and γ-catenin in a group of 128 endometrial carcinomas, including 95 endometrioid endometrial carcinomas (EECs) and 33 non-endometrioid endometrial carcinomas (NEECs). In addition, we evaluated the presence of loss of heterozygosity and promoter hypermethylation of the APC gene and mutations in the APC, β- and γ-catenin, AXIN1, AXIN2, and RAS genes, and phospho-Akt expression. No APC mutations were detected but LOH at the APC locus was found in 24.3% of informative cases. APC promoter 1A hypermethylation was observed in 46.6% of ECs, and was associated with the endometrioid phenotype (P=0.034) and microsatellite instability (P=0.008). Neither LOH nor promoter hypermethylation of APC was associated with nuclear catenin expression. Nuclear β-catenin expression was found in 31.2% of EECs and 3% of NEECs (P=0.002), and was significantly associated with β-catenin gene exon 3 mutations (P<0.0001). β-catenin gene exon 3 mutations were associated with the endometrioid phenotype, and were detected in 14 (14.9%) EECs, but in none of the NEECs (P=0.02). γ-catenin nuclear expression was found in 10 ECs; it was not associated with the histological type but was associated with more advanced stages (P=0.042). No mutations in γ-catenin, AXIN1 and 2 genes were detected in this series. Neither RAS mutations nor phospho-Akt expression, which were found in 16 and 27.6% of the cases, respectively, were associated with β-catenin nuclear expression. Our results demonstrated a high prevalence of alterations in molecules of the APC/β-catenin pathway, but only mutations in β-catenin gene are associated with aberrant nuclear localization of β-catenin.

Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis.

Abstract: Chorea-acanthocytosis (ChAc) is an autosomal recessive neurological disorder whose characteristic features include hyperkinetic movements and abnormal red blood cell morphology. Mutations in the CHAC gene on 9q21 were recently found to cause chorea-acanthocytosis. CHAC encodes a large, novel protein with a yeast homologue implicated in protein sorting. In this study, all 73 exons plus flanking intronic sequence in CHAC were screened for mutations by denaturing high-performance liquid chromatography in 43 probands with ChAc. We identified 57 different mutations, 54 of which have not previously been reported, in 39 probands. The novel mutations comprise 15 nonsense, 22 insertion/deletion, 15 splice-site and two missense mutations and are distributed throughout the CHAC gene. Three mutations were found in multiple families within this or our previous study. The preponderance of mutations that are predicted to cause absence of gene product is consistent with the recessive inheritance of this disease. The high proportion of splice-site mutations found is probably a reflection of the large number of exons that comprise the CHAC gene. The CHAC protein product, chorein, appears to have a certain tolerance to amino-acid substitutions since only two out of nine substitutions described here appear to be pathogenic.

Corticosteroids for acute ischaemic stroke

Abstract: Background Much of the brain swelling in ischaemic stroke is due to cytotoxic oedema, which is related to cell membrane dysfunction. Early treatment with corticosteroids may help reduce the swelling and improve the outcomes after a stroke. Objectives The objective of this review was to assess the effect of corticosteroids in acute presumed ischaemic stroke. Search strategy We searched the Cochrane Stroke Group trials register (last searched: 10 April 2001) and contacted investigators in the field. Selection criteria Published randomised trials comparing corticosteroids with placebo or control in people with acute (presumed or definite) ischaemic stroke. Trials were included if treatment began within 48 hours of stroke onset and if clinical outcome was assessed. Data collection and analysis Two reviewers independently applied the inclusion criteria, assessed trial quality and extracted the data. Main results Seven trials involving 453 people were included. Details of trial quality that may relate to bias were not available from most trials. No difference was shown in the odds of death within one year (odds ratio 1.08, 95% confidence interval 0.68 to 1.72). Treatment did not appear to improve functional outcome in survivors. Six trials reported neurological impairment but pooling the data was impossible because no common scale or time interval was used. The results were inconsistent between individual trials. The only adverse effects reported were small numbers of gastrointestinal bleeds, infections and deterioration of hyperglycaemia across both groups. Results unchanged since last update. Reviewer's conclusions There is not enough evidence to evaluate corticosteroid treatment for people with acute presumed ischaemic stroke. Conclusions unchanged since last update.

La fibrilación auricular permanente en las enfermedades cardiovasculares en España. Estudio CARDIOTENS 1999

Abstract: Introduction and objective. Atrial fibrillation is the most common arrhythmia seen in clinical practice. The objective of this study was to know the frequency of atrial fibrillation and the characteristics of patients with atrial fibrillation in the Cardiotens study. Material and method. A cross-section study with systematic selection of the study sample. All 32,051 outpatients seen on the same day by 1,159 physicians specialized in primary-care (79%) and cardiology (21%) were prospectively added to a database including history of cardiac disease (heart failure, coronary disease or atrial fibrillation), blood pressure, and ongoing treatment. Results. Atrial fibrillation was present in 25% of patients with previous cardiovascular disease (6,194 patients), the prevalence being 4.8% (1,540/32,051) of the study population. Atrial fibrillation was more frequent in females 29%, (810/2,837) than in males, 22% (730/3,367), p < 0.005). Atrial fibrillation was present in 33% (469/1,420) of patients with heart failure and in 12% (387/3,226) of those with coronary heart disease. Arterial hypertension was diagnosed in 25% of the patients with atrial fibrillation. Only 33% of them were treated with oral anticoagulants (41% of the patients seen by cardiologists and 26% by primary-care physicians, p < 0.005). The antiarrhythmic drug most often used was digoxin (36%). Conclusions. Atrial fibrillation had the same frequency and epidemiology in Spain as in other Western countries. Antithrombotic therapy is underused by primary-care physicians and cardiologists.

Noninvasive continuous monitoring of the effects of head position on brain hemodynamics in ventilated infants.

Abstract: Hypothesis. Laying supine with the head in midline position improves cerebral venous return by preventing functional occlusion of the vessels of the neck. Objectives. To assess changes in cerebral blood volume (ΔCBV) and cerebral blood flow (CBF) with the position of the head in ventilated patients using a noninvasive method. The influence of the type of ventilation and birth weight was evaluated. Methods. Thirteen conventionally ventilated and 8 high-frequency oscillatory ventilated infants, with mean gestational ages and birth weights of 31 ± 5 weeks (24–38) and 1575 ± 803 g (560–3000), respectively, were studied 5.8 ± 7.8 days (1–33) after birth. ΔCBV (mL/100 g) and CBF (mL/100 g/min) were measured by near-infrared spectroscopy with the head in supine midline position (ΔCBVs, CBFs) and rotated 90° to one side (ΔCBVlat, CBFlat). Heart rate, peripheral saturation, transcutaneous Pco2, and blood pressure were monitored continuously. Ventilatory settings remained constant throughout the study period. Results. Mean ΔCBVs was lower than mean ΔCBVlat, although no changes in blood pressure, transcutaneous Pco2, oxygenation, or heart rate occurred. This change in ΔCBV was not associated with the type of ventilation or birth weight, but the differences tended to be greater (dΔCBV = ΔCBVlat−ΔCBVs) in the smallest infants ( Conclusion. The supine midline position of the head favors cerebral venous drainage and helps to prevent elevation of CBV. Speculation. This finding may be important in the first days of life, particularly in tiny preterm infants recovering from lung disease with improving lung compliance, in which functional obstruction of cerebral venous drainage should be avoided.

Haemophilic cysts (pseudotumours).

Abstract: It is very likely that with the advent of widespread maintenance therapy, pseudotumours will be less common in the future. It is important that they are diagnosed early, and prevention of muscular haematomas is the key to reducing their incidence. There are a number of therapeutic alternatives for this dangerous condition: surgical removal, percutaneous management, exeresis and filling of the dead cavity, irradiation, and embolization. The management of a patient with a haemophilic pseudotumour is complex, with a high rate of potential complications. Surgical excision is the treatment of choice but should only be carried out in major haemophilia centres by a multidisciplinary surgical team. The main postoperative complications are death, infection, fistulization, and pathological fractures (even requiring amputations of affected limbs). Pelvic pseudotumours can even become complicated by fistulization to the large bowel and by obstruction of the ureters. Untreated, proximal pseudotumours will ultimately destroy soft tissues, erode bone, and may produce neurovascular complications.

Predisposing conditions for atrial fibrillation in atrial septal defect with and without operative closure.

Abstract: The aims of this study were to determine the prevalence and predisposing conditions for atrial fibrillation (AF) in adults with atrial septal defect (ASD) and to evaluate the influence of age at surgical repair. The study population consisted of 286 adults with ASD (mean age 39.5 ± 19 years). All patients had ≥1 follow-up visit and a Doppler echocardiographic study. One hundred ninety-two of the patients underwent surgical closure 1 to 34 years before the study. Analyzed variables were entered into univariate (Mann-Whitney U) and multivariate (stepwise logistic regression) models to assess independent predictors for AF. The prevalence of AF was similar in surgically treated patients (15.6%) and in the nonsurgical group (13.8%) (p = 0.69). Multivariate analysis showed that current age (RR 1.9 per each decade of age, 95% confidence interval [CI] 1.3 to 2.7, p = 0.001), mitral regurgitation (RR 3.0 per each degree of regurgitation, 95% CI 1.6 to 5.8, p = 0.001), left atrial enlargement (RR 2.8 per each 10 mm increase in size, 95% CI 1.5 to 5.2, p = 0.001), and tricuspid regurgitation (RR 1.9 per each degree of regurgitation, 95% CI 1.0 to 3.7, p = 0.04) were independent predictors of AF; however, gender, anatomic type, defect size, Qp:Qs, pulmonary artery pressure, right ventricular dimension, left ventricular shortening fraction, and prior surgical repair were not related to late AF development. In the surgical group, age >25 years at the time of surgery was the only predictor for AF independent of age at the time of the study (p = 0.02).

Displaced intracapsular hip fractures: hemiarthroplasty or total arthroplasty?

Abstract: The role of total hip arthroplasty for the treatment of displaced intracapsular fractures of the proximal femur in active patients is controversial Some authors have shown that such patients, when treated with a bipolar or unipolar hemiarthroplasty, are at increased risk of having acetabular erosion develop that might require later revision to a total hip replacement In fact, the results of some authors were not substantially different from those reported for elective total hip arthroplasty and were better than results reported for hemiarthroplasty However, other authors have strongly recommended avoiding total hip replacement in active elderly patients without preexisting acetabular disease (osteoarthritis, rheumatoid arthritis, Paget's disease) Although the current belief is that there is a place for primary total hip arthroplasty after intracapsular hip fracture, and that this procedure should be reserved for patients with preexisting symptomatic acetabular disease, in a preliminary prospective comparative study of 46 active patients without preexisting acetabular disease, the current author found better results with cemented Charnley's total hip arthroplasty than with cemented Thompson's hemiarthroplasty Long-term outcome and more detailed indications for total hip replacement as the primary treatment for intracapsular displaced fractures of the proximal femur are topics for additional study

Long-term effects of treatment with nasal continuous positive airway pressure on lung function in patients with overlap syndrome.

Abstract: We assessed the effects of chronic nasal continuous positive airway pressure (CPAP) therapy on lung function in a series of unselected patients with overlap syndrome, and we determined whether there were differences in the response induced by CPAP between hypercapnic (PaCO2 ≥ 45 mm Hg) and eucapnic patients with overlap syndrome. The study population included 55 unselected patients (48 men, mean age of 58.5 ± 10.5 years) with a concurrent diagnosis of chronic obstructive pulmonary disease (COPD) and obstructive sleep apnea-hypopnea syndrome (OSAHS) who had been referred to the Department of Pulmonology of our hospital over 2 consecutive years and in whom work-up studies resulted in the prescription of nasal CPAP therapy. An apnea-hypopnea index (AHI) greater than or equal to 10 in the cardiorespiratory polygraphy was required for the diagnosis of OSAHS. A forced expiratory volume in one second (FEV1) less than 80% and FEV1-forced vital capacity (FVC) ratio less than 70% of the reference values were required for the diagnosis of COPD. Control lung function studies and arterial blood gas measurements were performed at 6 and 18 months of CPAP therapy. These patients with overlap syndrome accounted for 28.5% of all patients with OSAHS treated with CPAP during the study period. The mean AHI was 37.3 ± 26.1 and the mean CPAP level 7.3 ± 1.3 cm H2O. Thirty-three patients were hypercapnic (PaCO2 ≥ 45 mm Hg) and 22 eucapnic. The hypercapnic group had higher AHI value (44.3 ± 26.9) than the eucapnic group (28.6 ± 21.9) (P < 0.05). After 6 months of CPAP therapy, there were statistically significant increases in PaO2, FEV1, and FVC, accompanied by significant decreases in PaCO2, serum bicarbonate levels, and alveolar-arterial oxygen difference. Response of overlap syndrome patients to CPAP therapy was superior in the hypercapnic group, particularly in relation to improvement of arterial blood gases. However, statistically significant differences in all parameters for the comparison between 6 and 18 months were not recorded.

Antioxidants inhibit the human cortical neuron apoptosis induced by hydrogen peroxide, tumor necrosis factor alpha, dopamine and beta-amyloid peptide 1-42.

Abstract: Several substances related to the neurodegenerative diseases of Alzheimer and Parkinson, such as hydrogen peroxide, tumor necrosis factor alpha, dopamine and beta-amyloid peptide 1-42, have been shown to induce apoptosis in tumoral cell lines and rat neurons but not in human neurons. Moreover, the role of mitochondria (membrane potential) during neuronal apoptosis is still a matter of debate. We present here, for the first time, in cultured human cortical neurons that the DNA fragmentation induced by these substances was preceded by a decrease of the mitochondrial membrane potential. We have also examined the antiapoptotic effect of the antioxidants glutathione, N -acetyl-cysteine and ascorbic acid. All these antioxidants inhibited the apoptosis induced by hydrogen peroxide, tumor necrosis factor alpha, dopamine and beta-amyloid peptide 1-42, since they were able to inhibit completely the mitochondrial membrane potential depolarization and the DNA fragmentation.

Gastro-allergic anisakiasis as a consequence of simultaneous primary and secondary immune response.

Abstract: Gastro-allergic anisakiasis has been reported as an entity in which an acute parasitism by Anisakis simplex is accompanied by an immunoglobulin (Ig)E-mediated systemic allergic reaction Serum samples were obtained from 24 patients within 24 h after the onset of symptoms (day 0) and after 1 month (day 30) and in 13 patients after 6 months Total IgE was assessed by the Imx method Specific IgE was assessed by CAP-FEIA Specific IgM, IgG, IgG4 and IgA antibodies were assessed by enzyme-linked immunosorbent assay against crude extract (CE) and excretory-secretory products (ESP) IgE immunoblotting (IB) was directed against CE or ESP (day 0 and day 30) We found a rise of total IgE, specific IgE, number of bands in IgE-IB, IgG and IgG4 between day 0 and day 30 with a fall to near basal levels after 6 months IgM levels were highest at day 0, falling over the next 6 months and IgA levels remained almost unchanged Correlation studies revealed a parallel stimulation of nearly all Ig isotypes, except IgM anti-ESP, whose antibody levels correlated negatively with specific IgG levels We found an extension of the IgE antibody repertoire in IB We conclude that the allergic IgE-mediated reaction in the course of gastro-allergic anisakiasis involves a parallel secondary Th2 type memory response and a primary immunologic stimulation of both Th2 and Th1 lymphocyte subsets against previously unrecognized antigens

The haemophilic pseudotumour.

Abstract: The management of the patient with a haemophilic pseudotumour is complex and carries a high rate of potential complications. There are a number of therapeutic alternatives for this dangerous condition: embolization, radiation, percutaneous management, surgical removal and exeresis, and filling of the dead cavity. It is hoped that with the advent of widespread maintenance therapy, pseudotumours will be less common in the future. It is important that they are diagnosed early, and prevention of muscular haematomas is key to reducing their incidence. Untreated, proximal pseudotumours will ultimately destroy soft tissues, erode bone and may produce neurovascular complications. Surgical excision is the treatment of choice but should only be carried out in major haemophilia centres by a multidisciplinary surgical team.

Total knee replacement in haemophilia

Abstract: We believe that total knee replacement (TKR) is a safe and effective procedure for the management of haemophiliac joint arthropathy; however, the increased risk of infection and non-infective complications remain a cause for concern. TKR in haemophilic patients carries with it an increased risk of post-operative infection in comparison to non-haemophiliac patients. Those patients at particular risk are the HIV-positive haemophiliac patients whose CD4 count is less than 200 cells mm-3. The latest techniques have gone a long way to reducing the complication rate and to achieving results that match those of a similar non-haemophiliac population.

Noninvasive Study of Endothelial Function in White Coat Hypertension

Abstract: Several studies have demonstrated that endothelial dysfunction is present in patients with essential hypertension. However, the presence of endothelial dysfunction in patients with white coat hypertension has not been studied. We evaluated the variation in the diameter of the brachial artery produced by flow-mediated dilation after a mechanical stimulus in patients with recently diagnosed mild to moderate sustained essential hypertension compared with patients with white coat hypertension. A total of 29 patients fulfilled inclusion criteria; 15 healthy volunteers were also included. After 24-hour ambulatory blood pressure monitoring, 15 patients were classified with sustained essential hypertension; 14 patients with white coat hypertension. Vascular ultrasound scans were performed according to the method described by Celermajer et al, with modification for noninvasive determination of endothelial dysfunction. Basal brachial artery diameter did not differ significantly among the 3 groups. Changes in arterial diameter 60 seconds after cuff deflation were higher in the control group compared with both hypertensive groups, but no significant differences were found between the sustained essential hypertension group and the white coat hypertension group. Flow-mediated dilation was similar in white coat hypertensives and sustained essential hypertensives. The presence of endothelial dysfunction in subjects with white coat hypertension suggests that it should not be considered a harmless trait and that white coat hypertension has common features with sustained essential hypertension.

Total knee arthroplasty in HIV-positive haemophilic patients.

Abstract: In the era of total joint replacements in orthopaedics, total knee arthroplasty (TKA) should be indicated in haemophilic patients suffering from severe knee pain and disability. However, the expected high risk of infection and other postoperative complications is a concern. Although the message of this article may seem conservative, it should not be inferred that TKA should still be avoided in a haemophilic patient, but rather that the orthopaedic surgeon should weigh the risks and benefits carefully. Clinical and immunological status should be considered before suggesting a total knee replacement to a haemophilic patient. If TKA is contraindicated, knee arthrodesis is the alternative. However, knee joint debridement can relieve pain for several years and delay the need for TKA.

Radiation therapy and combination of cladribine, cyclophosphamide, and prednisone as treatment of Bing-Neel syndrome: Case report and review of the literature.

Abstract: Waldenstrom's macroglobulinemia is a low-grade lymphoma that produces monoclonal IgM. Central nervous system symptoms are frequent in Waldenstrom's macroglobulinemia, mostly associated with blood hyperviscosity. Nevertheless, central nervous system infiltration by malignant cells (Bing-Neel syndrome) has rarely been reported. We describe the case of a 72-year-old man with Waldenstrom's macroglobulinemia and central nervous system infiltration by malignant cells with tumor formation. All similar cases reported in the literature are reviewed and the different therapeutic approaches discussed.

Efficacy of preoperative radiation therapy for resectable rectal adenocarcinoma when combined with oral tegafur-uracil modulated with leucovorin: results from a phase II study.

Abstract: PURPOSE: The aim of this study was to evaluate the efficacy of preoperative radiation therapy for resectable rectal adenocarcinoma (T3-T4) when delivered in combination with chemotherapy (oral tegafur-uracil modulated with leucovorin) METHODS: Thirty-eight patients (23 males; mean age, 62 years) with histologically proven rectal adenocarcinoma with primary tumor clinical classification T3-T4 (resectable) and N0 or N1-N2, according to TNM staging system, took part in the present clinical trial After tumor and metastasis resectability confirmation, radiation therapy was administered by delivering a dose of 45 Gy in 25 fractions for 5 weeks Chemotherapy treatment was initiated on the same day as radiotherapy and consisted of intravenous infusion of 6S-steroisomer of leucovorin 250 mg/m2/day in 2 hours on Day 1, followed by oral 350 or 300 mg/m2/day of tegafur (a 5-fluorouracil prodrug) plus uracil on Days 1 to 14 divided into 2 daily doses, and oral 6S-steroisomer of leucovorin 75 mg/12 hours on Days 2 to 14, with a total of 102 courses of neoadjuvant chemotherapy (ie, mean of 27 courses per patient) Six additional courses of tegafur-uracil were given postoperatively to all 38 patients but 1 who refused RESULTS: As a result of preoperative chemoradiation treatment, 4 (105 percent) complete responses, 20 (526 percent) partial responses, and 14 (368 percent) patients with disease stabilization were observed No patients had preoperative disease progression Histologically proven downstaging was observed in 23 (60 percent) patients On initial evaluation, only 39 percent of patients were considered as being good candidates for sphincter-preserving surgery; however, on preoperative chemoradiation completion this figure increased up to 60 percent For the 23 patients eventually undergoing sphincter-preserving surgery, postoperative sphincter function assessment showed excellent function in 15 (65 percent) patients, good in 5 (22 percent), fair in 2 (9 percent), and poor in 1(4 percent) With a median follow-up of 37 (range, 10–62) months, local failure was found in 3 (8 percent) patients and distant failure in 2 (5 percent) Three-year actuarial disease-free survival and 3-year overall survival rates were 83 and 90 percent, respectively Local control rate was 92 percent Toxicity and postoperative complication rates were reasonable CONCLUSIONS: Our neoadjuvant radiation therapy protocol is efficient for the preoperative treatment of resectable rectal adenocarcinoma when combined with chemotherapy (oral tegafur-uracil modulated with leucovorin) However, this protocol needs to be tested in a phase-III clinical trial with a larger sample size

Detection of C1 inhibitor (SERPING1/C1NH) mutations in exon 8 in patients with hereditary angioedema: evidence for 10 novel mutations.

Abstract: Hereditary angioedema (HAE) is caused by mutations in the C1 inhibitor gene (SERPING1, C1NH) and the result is C1 inhibitor deficiency, either in levels or function. We have searched exon 8 for mutations by direct sequencing and analyzed the rest of the exons by SSCP in 87 Spanish families affected by HAE. Out of 87 screened families, we have detected exon 8 mutations in 26. Among these, 17 different mutations were identified: 14 point mutations and 3 frameshift. Seven of the point mutations and the three frameshift were not previously reported. Mutations were: S438P; R444P; V451G; W460X; V468D; G471E; X479R; S417fsX427; I440fsX450; E429fsX450. The rest of the families presented previously reported mutations, 5 missense and two nonsense. In none of the 26 families was an additional change identified in the rest of the exons by SSCP, and, in 20 out of the 22 families with point mutation, we verified that the mutation did not affect a healthy relative. Seven of these families had no history of the disease, and in five of them we were able to verify that the progenitors did not have the mutation. Therefore, they were de novo mutations. © 2002 Wiley–Liss, Inc.

In situ fixation of nondisplaced intracapsular fractures of the proximal femur.

Abstract: The Garden classification of femoral neck fractures is used most commonly in the literature However, there is difficulty in differentiating the four types of fractures as shown by studies of interobserver reliability Therefore, it may be more accurate to classify femoral neck fractures as nondisplaced (Garden Types I and II) or displaced (Garden Types III and IV) Nondisplaced femoral neck fractures (Garden Types I and II) should be stabilized internally using multiple (two to four) lag screws Care should be taken to avoid any loss of reduction during the surgical procedure Decompression of the hematoma by needle aspiration or capsulotomy has been shown to reduce intracapsular pressures and improve blood flow in the femoral head However, from the practical point of view, there currently is insufficient evidence to justify capsulotomy Complications after in situ fixation of nondisplaced femoral neck fractures can be divided into two categories: general complications relating to comorbidities, surgery, or anesthesia; and complications after the use of cannulated screws such as unrecognized screw penetration of the hip, infection, nonunion, and osteonecrosis

Orthopaedic surgery in haemophilic patients with inhibitors: an overview

Abstract: Our experience and a review of the literature on inhibitors have shown that, with the availability of recombinant factor VIIa (rFVIIa), haemophilic patients with high inhibitor titres requiring elective orthopaedic surgery can undergo such surgery with a high expectation of success. The advent of rFVIIa has made major elective orthopaedic surgery possible in haemophilic patients with high-titre inhibitors, resulting in an improved quality of life. Recombinant FVIIa appears to be an efficient haemostatic product for surgery in patients suffering from haemophilia A and B with inhibitors. The series of major elective orthopaedic surgical procedures using rFVIIa (n=53) is the largest ever reported in haemophilic patients with inhibitors, despite the long-standing presence of other treatment modalities, such as high-dose human factor VIII (FVIII), porcine FVIII (n=8), and prothrombin complex concentrates/activated prothrombin complex concentrates (n=9). Thorough analysis of each case as part of a multidisciplinary team will allow us to perform elective orthopaedic procedures in patients with inhibitors.

Orthopaedic surgery of haemophilia in the 21st century: an overview.

Abstract: Close co-operation between haematologists, orthopaedic surgeons, rehabilitation physicians and physiotherapists is essential for obtaining satisfactory results after orthopaedic procedures that are performed on haemophilic patients. Although continuous prophylaxis could avoid the development of the orthopaedic complications of haemophilia that we still see in the 21st century, such a goal has not been achieved so far, not even in developed countries. Therefore, orthopaedic surgeons are still required to carry out many different surgical procedures, such as arthrocentesis, synoviorthesis, synovectomies, tendon lengthening, articular debridements, alignment osteotomies, joint arthroplasties, nerve releases, opening of compartment syndromes, removal of pseudotumours and osteosynthesis of fractures. Furthermore, the emergence of human immunodeficiency virus has meant that immunosuppressed patients in developed countries sometimes require an arthrotomy for the treatment of spontaneous septic arthritis, or the surgical drainage of a spontaneously infected haematoma (abscess). In addition, they have a high risk of postoperative infection after any surgical procedure, particularly a joint arthroplasty.

Clinical characteristics of patients with mustard hypersensitivity.

Abstract: Background Although mustard is frequently consumed in Spain and elsewhere, only isolated case reports of mustard allergy have been reported. No large series of case studies have been published. Objectives We sought to describe demographic, clinical, and immunologic characteristics of patients with mustard hypersensitivity and to determine whether any significant differences exist in age, sex, atopic family history, total immunoglobulin E (IgE) level, and specific IgE to mustard ratio among patients with differing characteristics. Methods Twenty-nine patients with a history of mustard allergy underwent skin prick tests with mustard, determination of total IgE, and evaluation of specific IgE to mustard. Skin prick tests with Lolium perenne , Olea europaea , and Artemisia vulgaris were done in patients with symptoms of pollinosis. The aforementioned variables were compared between various subgroups of patients for systemic versus local reactions to mustard, association versus no association with allergies to other vegetable foods, and association versus no association with pollinosis. Results The male:female ratio was 10:19. Skin prick tests to mustard were positive in all patients. The total IgE geometric mean was 189.3 kU/L. The specific IgE to mustard was positive in all patients (0.7 to >100 kU/L). Of the 29 patients, 19 (66%) had a systemic reaction after consumption of mustard, and 10 (34%) had a local reaction; 14 (48%) had anaphylaxis. Fifteen patients (52%) had symptoms after ingestion of other vegetable foods, and 15 also had typical symptoms of pollinosis. No significant differences were found in age, sex, atopic family history, total IgE, and specific IgE to mustard between the various subgroups studied. Conclusions Most study patients with mustard hypersensitivity had a systemic reaction and had associated pollinosis or allergy to other vegetable foods. Mustard sensitivity should be routinely tested in patients with idiopathic anaphylaxis.

Nutrition and pharyngeal cancer: results from a case-control study in Spain.

Abstract: Background Oropharyngeal and hypopharyngeal cancer is increasing all over the world, frequently affecting more and more women and younger individuals and not only the typical 50- to 60-year-old heavy smoker and drinking man. In addition, 5-year overall survival rate remains poor (30% to 40% in most series), despite advances in treatment. Therefore, it is crucial to understand as accurately as possible the risk factors for these malignancies to improve primary prevention. Methods We report the results from a case-control study of pharyngeal cancer risk factors conducted in Spain involving 232 consecutive patients who were gender- and age-matched with 232 controls. Data were collected by interviewer-administered personal interview. Results Our results show that low intake of fruit, fruit juice, uncooked vegetables, dietary fiber–containing foods (legume and cereals), fish, milk, and dairy products is an independent risk factor for pharyngeal cancer and that high consumption of meat and fried foods also increases the risk once data are adjusted for tobacco smoking and alcohol drinking. Conclusions Although findings for fruit, juice, and uncooked vegetables are in accordance with those from other authors and can be explained on a biologic basis, the relationship between pharyngeal cancer and dietary excess of saturated fatty acids needs experimental investigation. Findings for milk, dairy products, and fish also warrant more detailed epidemiologic research because of conflicting data reported in the literature and because of the reportedly ambiguous role of retinol in human cancers. No conclusive explanations for the protective effect of dietary fiber–containing foods can be put forward today. Our results are uniquely attributable to oropharyngeal and hypopharyngeal cancers because of the small size of our nasopharyngeal cancer subsample. © 2002 Wiley Periodicals, Inc. Head Neck 24: 830–840, 2002

Bone fractures in the haemophilic patient.

Abstract: The goal of modern fracture treatment is to obtain an optimal outcome, with the patient's return to full activity as soon as possible. Nowadays, internal stabilization is indicated in most displaced fractures in adults, whereas external fixation remains the best choice for initial stabilization with severe soft-tissue injuries. If a fracture is correctly treated in a haemophilic patient, it will progress to consolidation in a similar time-frame to fractures occurring in the general population.

Genetic determinants of rheumatoid arthritis: the inducible nitric oxide synthase (NOS2) gene promoter polymorphism

Abstract: An association study and a linkage analysis were carried out in parallel in order to investigate the association of the inducible nitric oxide synthase (NOS2) gene promoter polymorphism with rheumatoid arthritis (RA) predisposition and/or outcome including a −954G-C mutation, a di-allelic (TAAA)n marker and the highly polymorphic (CCTTT) The −954G-C point mutation occurred non-polymorphic and the di-allelic (TAAA)n marker was not associated with RA predisposition The (CCTTT)nlocus showed a trend for RA association in the case-control study, however, stratification data by Class II status did not yield significant effect and overall, the family study showed no significant association nor linkage for any of the markers under study using TDT and non-parametric linkage respectively Finally, no influence was detected regarding any of the clinical parameters tested After evaluating for the first time the influence of NOS2 promoter polymorphism in RA, it seems to have no major effect on disease susceptibility and/or outcome

Brucellosis as a cause of septic loosening of total hip arthroplasty

Abstract: Infection after a total hip arthroplasty is a severe complication and is associated with a high incidence of morbidity. We describe a case of late infection, 5 years after the implantation of a cemented hip prosthesis. The infection was caused by gram-negative Brucella melitensis and occurred in a 63-year-old man who owned cattle. As far as we know, such a complication has never been published before.