Gender and plasma iron biomarkers, but not HFE gene mutations, increase the risk of colorectal cancer and polyps.

A cohort study of patients included in the Basque Country colorectal cancer (CRC) screening programme was carried out to assess the risk of adenomatous polyps and CRC (P-CRC) associated with HFE gene mutations, with gender and with iron biomarkers (serum ferritin (SF), iron (Fe) and transferrin saturation index (TSI)). Among 432 included patients (mean age 59.8 years), 263 were men (60.9 %) and 169 women (39.1 %). P-CRC were identified in 221 patients (51.2 %) and no polyps (NP) in 211 patients (48.8 %). HFE mutations were identified in 43.8 % of the patients. C282Y/wt genotypic frequency was 6.8 % in the P-CRC group and 1.4 % in the NP group (p < 0.05). The allelic frequency was 3.8 versus 1.2 % (p < 0.05). For laboratory, all three iron biomarkers showed a statistically significant difference: mean Fe, 91.29 ± 34 for P-CRC and 80.81 ± 30.59 for NP group. Mean TSI for P-CRC was 24.95 ± 8.90 and 22.74 ± 8.79 for NP group. Mean SF 308.09 ± 536.32 for P-CRC and 177.55 ± 159.95 for NP group. In a multivariate logistic regression analysis, only male gender (odds ratio (OR) = 2.04, 1.29-3.22), SF (OR = 1.001, 1.0004-1.003) and Fe (OR = 1.01, 1.004-1.02) were related with the presence of CRC and adenoma. Men gender and raised serum iron biomarkers increase the risk of P-CRC.

Indications for and results of liver retransplantation.

Liver retransplantation (LReTx) is the therapeutic option for the irreversible failure of a hepatic graft. Our aim was to evaluate the rate of and indications for LReTx and actuarial patient survivals. Among 1260 LTx were 79 LReTx (6.3%). During the first LTx, there were no apparent differences between patients who did or did not required LReTx. The most frequent reasons were hepatic artery thrombosis (31.6%), recurrence of the VHC cirrhosis (30.4%), and primary graft failure (21.5%). The actuarial survivals at 1 and 5 years were 83% and 69% among those without LReTx versus 71% and 61% among early LReTx, and 64% and 34% among late LReTx (P < .001). Although there exists high morbidity and mortality with LReTx, it seems that this therapeutic alternative continues to be valid for patients with early hepatic loss, but not when the graft loss was late. It becomes necessary to define the minimal acceptable results that patient can benefit from LReTx.

Blood pressure is not associated with haematoma enlargement in acute intracerebral haemorrhage.

BACKGROUND AND PURPOSE: We performed an observational study that compared baseline and subsequent blood pressure (BP) measurements and its association with haematoma enlargement (HE) in patients with intracerebral haemorrhage (ICH). METHODS: We prospectively studied consecutive patients with supratentorial spontaneous ICH within the first 6 h after the onset of symptoms. HE was defined as an increase >or=33% in the volume of haematoma on the CT obtained 24-48 h after the onset of symptoms as compared with the CT at admission. We recorded systolic BP (SBP), diastolic BP (DBP) and mean BP (MBP) at admission and at 6, 12, 18 and 24 h after onset; the maximum SBP, DBP and MBP during the study period; the maximum SBP and DBP within intervals; the mean of all BP readings; administration of antihypertensive agents. RESULTS: We studied 60 patients whose mean age was 72.1 +/- 11.3 years. HE was observed in 27 (45%) patients. No statistically significant differences were observed in any of the analyses that compared BP parameters between the HE and non-HE groups (two-way anova). CONCLUSIONS: In an exploratory analysis, we did not find an association between BP and HE within the first 24 h after an acute ICH.

[Porphyria cutanea tarda. An analysis of HFE gene mutations, hepatitis viruses, alcohol intake, and other risk factors in 54 patients from Guipúzcoa, Basque Country, Spain]. / Porfiria cutánea tarda: asociación con mutaciones HFE, hepatitis virales, alcohol y otros factores de riesgo en Guipúzcoa, País Vasco.

AIM: To study the frequency of HFE gene mutations (C282Y, H63D, S65C) in a group of 54 sporadic PCT patients and in a group of healthy controls (blood donors) from Guipúzcoa, Spain. We studied the association of PCT with HCV, HBV, alcohol abuse, and other established risk factors. METHODS: The analysis of mutations was made by PCR. Allelic and genotypic frequencies were compared. Probability was determined and a Chi-squared test was performed. RESULTS: No association was observed between C282Y mutation and PCT (5.76 vs. 5% in controls). A high H63D mutation frequency was observed in PCT (34.25%) but was not statistically significant (controls 29.31%) because of the high prevalence of this mutation in the Basque general population. The S65C mutation was lower in PCT than in controls. There is a similar presence for H63D heterozygosis in PCT (38.8 vs. 38.8%). HCV association was observed in 35.18% of patients with PCT. HBV infected 7.4% of patients. Heavy alcohol intake (> 60 g/day) was present in 55.55% of patients. No HIV-infected patients were detected. The study of other risk factors revealed only one of the five women with PCT taking estrogens. CONCLUSION: Our results found no relevant role for C282Y and H63D mutations. External factors such as HCV and alcohol could be determinant in the development of PCT in the Basque population.

Assessing the competences associated with a nursing Bachelor thesis by means of rubrics.

BACKGROUND: Writing a Bachelor thesis is the last step in obtaining a university degree. The thesis may be job- or research-orientated, but it must demonstrate certain degree-level competences. Rubrics are a useful way of unifying the assessment criteria. OBJECTIVES: To design a system of rubrics for assessing the competences associated with the Bachelor thesis of a nursing degree, to examine the system's reliability and validity and to analyse results in relation to the final thesis mark. DESIGN: Cross-sectional and psychometric study conducted between 2012 and 2014. SETTINGS: Nursing degree at a Spanish university. PARTICIPANTS: Twelve tutors who designed the system of rubrics. Students (n = 76) who wrote their Bachelor thesis during the 2013-2014 academic year. METHODS: After deciding which aspects would be assessed, who would assess them and when, the tutors developed seven rubrics (drafting process, assessment of the written thesis by the supervisor and by a panel, student self-assessment, peer assessment, tutor evaluation of the peer assessment and panel assessment of the viva). We analysed the reliability (inter-rater and internal consistency) and validity (convergent and discriminant) of the rubrics, and also the relationship between the competences assessed and the final thesis mark. RESULTS: All the rubrics had internal consistency coefficients >0.80. The rubric for oral communication skills (viva) yielded inter-rater reliability of 0.95. Factor analysis indicated a unidimensional structure for all but one of the rubrics, the exception being the rubric for peer assessment, which had a two-factor structure. The main competences associated with a good quality Bachelor thesis were written communication skills and the ability to work independently. CONCLUSION: The assessment system based on seven rubrics is shown to be valid and reliable. Writing a Bachelor thesis requires a range of degree-level competences and it offers nursing students the opportunity to develop their evidence-based practice skills.

Two new HLA class I alleles described in a Spanish individual, HLA-A*11:01:01:04 and HLA-B*35:330.

Two new HLA class I alleles, HLA-A*11:01:01:04 and HLA-B*35:330, were characterized in a Spanish patient.

Report From the First and Second Spanish Killer Immunoglobulin-Like Receptor Genotyping Workshops: External Quality Control for Natural Killer Alloreactive Donor Selection in Haploidentical Stem Cell Transplantation.

An important factor affecting the success in the setting of related haploidentical hematopoietic stem cell transplantation (HSCT) is the graft-versus-leukemia effect mediated by natural killer (NK) cells when the donor displays NK alloreactivity versus the recipient. NK cell function is regulated by killer immunoglobulin-like receptors (KIR) and it has been described that donor KIR genotype influences transplantation outcome. This has led to a requirement of laboratories to have a quality assurance program for validation and control of their KIR genotyping methods. The goal of the 1st and 2nd Spanish KIR Genotyping Workshops was to provide an external proficiency testing program in KIR genotyping for Spanish immunology and transplant laboratories. These workshops were conducted during the years 2014-2016 and consisted of 17 participating laboratories typing a set of 20 samples. The presence/absence of 16 mandatory KIR loci (2DL1, 2DL2, 2DL3, 2DL4, 2DL5, 2DS1, 2DS2, 2DS3, 2DS4, 2DS5, 2DP1, 3DL1, 3DL2, 3DL3, 3DS1, and 3DP1) was evaluated per sample. Methods for KIR genotyping included polymerase chain reaction with the use of sequence-specific primers and sequence-specific oligoprobes. Consensus typing was reached in all samples, and the performance of laboratories in external proficiency testing was satisfactory in all cases. The polymorphism detected in the small sample studied in both workshops is indicative of an ample variety of KIR gene profiles in the Spanish population.

Clinical and pathologic manifestations of pulmonary vascular disease in the toxic oil syndrome.

The toxic oil syndrome in Spain affected greater than 20,000 people. In the initial stages, it was characterized by a respiratory distress syndrome with myalgias and eosinophilia. Pulmonary hypertension developed in 20% of the patients and in many, it has spontaneously regressed. Nevertheless, in a small subgroup, it has progressed to a malignant course of cor pulmonale, leading rapidly to death. Clinical and pathologic features of 40 patients with severe pulmonary hypertension due to the toxic oil syndrome are presented (32 female and 8 male patients; mean age 26 +/- 13 years). The study began in June 1981, which was near the onset of the toxic oil epidemic, and ended in December 1987, greater than 6 years later. The pulmonary hypertension is clinically and pathologically indistinguishable from primary pulmonary hypertension. Direct endothelial injury by the toxic agent is proposed as the initial trigger of this type of pulmonary hypertension, but an interaction between the toxic agent and specific individual susceptibility is probably required in its pathogenesis.

Exon-2 nucleotide sequences, polymorphism and haplotype distribution of a new HLA-DRB gene: HLA-DRB sigma.

Two new allelic exon-2 HLA-DRB sequences have been identified by using universal and also specific DRB primers. They may correspond to a previously unidentified DRB gene (DRB sigma) and define a new supratypic group ("DRw54") which includes DR1, DR"Br", DR2 and DRw10 bearing HLA haplotypes. This is probably the last HLA-DRB gene to be described in the standard DR haplotypes on the bases of the number of TaqI RFLPs obtained. Sequence comparison with their respective DP and DQ sequences shows that DRB sigma is unequivocally placed within the DRB family and also a constructed "neighbouring homology tree" indicates that DRB sigma gene is probably the eldest in the DRB family, thus the first to diverge from the ancestral DRB gene. An hypothetically deduced DRB sigma beta 1 protein domain was found to be quite different from the corresponding DRB1, DRB3, DRB4 and DRB5 products, since residues 40-55 would bear a longer alpha-helical conformation and would also exist a loss of both the extended conformation at residues 50-54 and the alpha-helix at residues 64-71. Thus, the putative DRB sigma protein would be remarkably different to other DRB ones. Also, a DRB sigma partial transcript (exon-2) has been obtained by PCR of cDNA by using specific DRB sigma oligonucleotides, but a specific Northern blot hybridization has not been achieved.

[Reliability and validity of the Severe Impairment Battery, short form (SIB-s), in patients with dementia in Spain]. / Fiabilidad y validez de la bateria de evaluacion del deterioro grave, version abreviada (SIB-s), en pacientes con demencia en España.

INTRODUCTION: People with progressive dementia evolve into a state where traditional neuropsychological tests are not effective. Severe Impairment Battery (SIB) and short form (SIB-s) were developed for evaluating the cognitive status in patients with severe dementia. AIM: To evaluate the psychometric attributes of the SIB-s in patients with severe dementia. PATIENTS AND METHODS: 127 institutionalized patients (female: 86.6%; mean age: 82.6 ± 7.5 years-old) with dementia were assessed with the SIB-s, the Global Deterioration Scale (GDS), Mini-Mental State Examination (MMSE), Severe Mini-Mental State Examination (sMMSE), Barthel Index and FAST. RESULTS: SIB-s acceptability, reliability, validity and precision were analyzed. The mean total score for scale was 19.1 ± 15.34 (range: 0-48). Floor effect was 18.1%, only marginally higher than the desirable 15%. Factor analysis identified a single factor explaining 68% of the total variance of the scale. Cronbach's alpha coefficient was 0.96 and the item-total corrected correlation ranged from 0.27 to 0.83. The item homogeneity value was 0.43. Test-retest and inter-rater reliability for the total score was satisfactory (ICC: 0.96 and 0.95, respectively). The SIB-s showed moderate correlation with functional dependency scales (Barthel Index: 0.48, FAST: -0.74). Standard error of measurement was 3.07 for the total score. CONCLUSIONS: The SIB-s is a reliable and valid instrument for evaluating patients with severe dementia in the Spanish population of relatively brief instruments.

TITLE: Fiabilidad y validez de la bateria de evaluacion del deterioro grave, version abreviada (SIB-s), en pacientes con demencia en España.Introduccion. Las personas con demencia progresiva evolucionan hacia un estado donde los tests neuropsicologicos tradicionales dejan de ser eficaces. La bateria de evaluacion del deterioro grave, en su forma completa (SIB) y abreviada (SIB-s), se desarrollo para evaluar el estado cognitivo de pacientes con demencia avanzada. Objetivo. Evaluar los atributos psicometricos de la SIB-s en poblacion española. Pacientes y metodos. Estudio transversal de 127 pacientes con demencia (86,6%, mujeres; edad media: 82,6 ± 7,5 años) evaluados con la SIB-s y las siguientes medidas: escala de deterioro global, miniexamen cognitivo (MEC), miniexamen del estado mental grave (sMMSE), indice de Barthel y escala del estado funcional. Resultados. La puntuacion media total de la SIB-s fue de 19,1 ± 15,34 (rango: 0-48). Efectos suelo y techo < 20%. El analisis factorial identifico un unico factor que explica el 68% de la varianza total de la escala. La consistencia interna fue alta (alfa de Cronbach: 0,96). La correlacion item-total corregida oscilo entre 0,27 y 0,83, y la homogeneidad de los items fue de 0,43. La fiabilidad test-retest e interevaluador fue satisfactoria (coeficiente de correlacion intraclase: 0,96 y 0,95, respectivamente), asi como la validez de constructo convergente con otras medidas cognitivas (MEC: 0,83; sMMSE: 0,9). La SIB-s mostro una correlacion moderada con escalas cognitivas de dependencia funcional (indice de Barthel: 0,48; FAST: ­0,74). El error estandar de la medida fue de 3,07 para el total de la escala. Conclusiones. La SIB-s es un instrumento fiable y valido, relativamente breve, para evaluar a pacientes con demencia avanzada en la poblacion española.

Usefulness of the log odds of positive lymph nodes to predict and discriminate prognosis in gastric carcinomas.

BACKGROUND: The lymph node ratio (LNR) and log odds of positive lymph nodes (LODDS) have been proposed to minimize the stage migration phenomenon. The value of the LODDS and LNR staging systems to predict and discriminate prognosis was assessed and compared to the International Union Against Cancer (UICC) TNM classification (pN). METHODS: Three hundred and twenty-six patients with gastric carcinoma were retrospectively studied. Disease-specific survival rates were calculated for every pN, LNR, and LODDS category. RESULTS: Four LNR categories (0, 1-25, 26-75, and >76 %) and four LODDS categories (-5 to -3, > -3 to -1, > -1 to 3, and >3 to 5) were established. In the multivariate analysis, only the stage pT3-4 versus pT1-2 (HR 1.88, 95 % CI 1.11-3.20, p=0.02) and LODDS as continuous variable (HR 1.40, 95 % CI 1.21-1.61, p<0.001) remained as independent prognostic factors. In patients with <16 lymph nodes retrieved, only the LODDS system could discriminate different disease-specific survival curves for every category. LODDS categories were able to discriminate subgroups with different prognoses in pN stages and LNR categories. CONCLUSIONS: The LODDS staging system was superior to the pN classification and LNR system to discriminate risk prognosis especially in patients with an insufficient number of retrieved lymph nodes.

HLA-A*2402 and a microsatellite (D6S248) are secondary independent susceptibility markers to ankylosing spondylitis in Basque patients.

Ankylosing spondylitis (AS) is universally associated with human leukocyte antigen B27 (HLA-B27), although other genes could determine the development and clinical expression of the disease. HLA-A9 (A*2402) allele was previously found to be associated in Basque patients. The objective of this study is to perform a more precise analysis of microsatellite polymorphisms in HLA-A*2402 and B27 haplotypes to elucidate the significance of this association. A group of 50 unrelated AS patients and 113 controls of Basque origin were studied. Eight microsatellites in the class I major histocompatibility complex region with vicinity to HLA-A and -B were analyzed and the strength of allelic associations to AS and linkage disequilibrium (LD) between alleles were evaluated. Allele 15 at the microsatellite locus D6S248, 1000 Kb telomeric to HLA-A showed a strong positive association with the disease (OR:6; pc=4.7x10(-4)) and it could not be explained by LD to HLA-B27, HLA-A*2402 or any other loci. We found that D6S248-15 allele together with HLA-A*2402 could be B27-independent markers of additional susceptibility gene/s localised in the region telomeric to HLA-A in Basque AS patients.

Immunogenetics of systemic lupus erythematosus in Spanish patients: differential HLA markers.

HLA-DR3 antigen included in the compound phenotype B18BfF1 (but not the one linked to the B8BfS compound phenotype) was found to be significantly increased in our SLE patients. It is remarkable that in our Southern-Mediterranean population, B18BfF1DR3 individuals (but not B8BfSDR3) are prone to SLE with renal disease, in contrast with other Northern European and Caucasoid populations. Also, patients with autoantibodies to Ro/La have a significant increase of the B8DR3 compound phenotype. Production of autoantibodies against Ro alone was associated to DR2 and production of anti-Sm/nRNP to DR3 (either B18BfF1 or B8BfS associated) only in the subgroup without renal disease. The distinctive HLA and autoimmune associations to SLE with and without renal disease suggests that both clinical forms may not share a common identical pathogenesis.

Pulmonary hypertension due to toxic oil syndrome. A clinicopathologic study.

Clinical and pathologic findings in seven patients who died of severe pulmonary artery hypertension due to toxic oil syndrome are assessed. These cases correspond to a late stage of evolution of the disease characterized by progressive deterioration in clinical features--increasing dyspnea, chest pain, syncope, and death (in low-output heart failure). The main pathologic pulmonary vascular findings consisted of plexiform lesions, thromboses, and venous lesions. Endothelial damage induced by the toxic agents is suggested as an initial causative mechanism, perpetuated by intimal proliferation and in situ thrombosis. Plexiform lesions appear late and active histologically. This new cause of pulmonary artery hypertension, with pathologic findings similar to those found in primary pulmonary hypertension, may help in understanding the pathophysiology of this unknown disease.

Posterior fossa xanthogranuloma. Case report.

A large subdural xanthogranuloma was removed from the posterior fossa of a 53-year-old woman with symptoms of Hand-Schüller-Christian disease. Two additional masses with similar density on computerized tomography were found in the hypothalamus and in the choroid plexus of the right lateral ventricle.

Angiomyolipoma of the liver and lung: a case explained by the presence of perivascular epithelioid cells.

We report a case of synchronous hepatic and pulmonary angiomyolipoma not associated with tuberous sclerosis or renal angiomyolipoma. The liver tumor contained tortuous vessels, smooth muscle tissue, and fat. It was partially necrotic and made up of pleomorphic epithelioid smooth muscle cells. Positivity for HMB-45 confirmed the diagnosis of angiomyolipoma. Lung biopsy showed multiple abnormal proliferation of smooth muscle cells exhibiting spindle-shaped or epithelioid morphology. The tumor grew around the vessels, and the cells were positive for HMB-45. The occurrence of this case could be explained by a simultaneous proliferation of perivascular epithelioid cells. To the best of our knowledge, this is the first case of hepatic angiomyolipoma associated with multiple pulmonary angiomyolipomas, mimicking hepatic tumor lung metastases on X-ray examination.

Laryngeal liposarcoma: report of a case.

Laryngeal and hypopharyngeal liposarcomas are fairly rare tumors, with only 30 convincing cases reported to date. These tumors usually arise in the supraglottic area, and only two cases have been reported to affect the true vocal cord. They behave in an indolent fashion with multiple local recurrences and only rarely cause the patient's death. Our case highlights the natural history of this entity. A 62-year-old man presented because of air-way obstruction. A CT scan discovered a large 5 cm polypoid mass in the right aryepiglottic fold. The patient had already undergone three previous operations for the same reason in another clinic, with histopathological diagnoses of fibrovascular polyps. In the last recurrence, only a careful search for lipoblasts in the surgical specimen allowed us to identify this lesion as a low-grade well-differentiated liposarcoma. Complete resection was impossible in this case, despite total laryngectomy.

Influence of age on laryngeal carcinoma.

The constant increase in human life expectancy has led to a higher proportion of oncologic patients of advanced age. The clinical characteristics of 272 patients with laryngeal carcinoma diagnosed when they were 70 or older are compared with those of a group of younger patients with the same kind of tumor. The advanced age group showed a higher proportion of women, less tobacco and alcohol use, a predominance of glottic location, and a higher previous morbidity. The T category was similar in both groups, but the advanced age group had a higher proportion of N0 tumors. The planning of treatment was similar in the two groups of patients, except for less use of both chemotherapy and partial larynx surgery in the advanced age group. Results in terms of local and regional control, distant metastasis, and 5-year adjusted survival were similar in both groups of patients. The results suggest that advanced age is not a determining factor when considering radical treatment in a patient with laryngeal carcinoma.

[Usefulness of transesophageal echocardiography in the diagnosis of coronary anomalies]. / Utilidad de la ecocardiografía transesofágica en el diagnóstico de anomalías coronarias.

BACKGROUND: Although rare, anomalous coronary arteries are associated with myocardial ischemia and sudden death. Identification is made by angiography but its true course is difficult to determine even with this invasive procedure. OBJECTIVES: The purpose of this study is to determine the role of transesophageal echocardiography (TEE), Doppler and color flow Doppler, in identifying the origin and course of anomalous coronary arteries. MATERIAL AND METHODS: Six patients with angiographically confirmed anomalous coronary arteries were studied by TEE, Doppler and color flow Doppler. RESULTS: The abnormal origin was confirmed in all six patients. In three, the left main originated from the right sinus of Valsalva. In one the right coronary artery from the left sinus of Valsalva. One was a single right coronary artery from the right sinus of Valsalva, and one, had a fistula between the coronary artery and the right ventricle. In four, the TEE was able to demonstrate clearly the course in relation to the great vessels, two were interarterial and one posterior. Color flow Doppler was obtained in four patients. In one patient, there was increase in diastolic flow velocity due to proximal coronary obstruction. One had increase of the systolic flow velocity. CONCLUSIONS: TEE is useful test for diagnosing the origin of anomalous coronary arteries and confirming its course in relation to the great vessels. Doppler flow Doppler is useful in localization the vessel.