PICO questions and DELPHI methodology for improving the management of patients with acute hepatic porphyria.

BACKGROUND: Acute hepatic porphyrias (AHPs) are a group of rare diseases that encompasses acute intermittent porphyria, variegate porphyria, hereditary coproporphyria, and 5-aminolaevulinic acid dehydratase deficiency porphyria. Symptoms of AHP are nonspecific which, together with its low prevalence, difficult the diagnosis and follow-up of these patients. MATERIAL AND METHODS: This project used DELPHI methodology to answer PICO questions related to management of patients with AHPs. The objective was to reach a consensus among multidisciplinary porhyria experts providing answers to those PICO questions for improving diagnosis and follow-up of patients with AHP. RESULTS: Ten PICO questions were defined and grouped in four domains: 1. Biochemical diagnosis of patients with AHP. 2. Molecular tests for patients with AHP. 3. Follow-up of patients with AHP. 4. Screening for long-term complications of patients with AHP. CONCLUSIONS: PICO questions and DELPHI methodology have provided a consensus on relevant and controversial issues for improving the management of patients with AHP.

The ERBB2 gene polymorphisms rs2643194, rs2934971, and rs1058808 are associated with increased risk of gastric cancer.

Gastric cancer (GC) is the third most lethal type of cancer worldwide. Single nucleotide polymorphisms (SNPs) in regulatory sites or coding regions can modify the expression of genes involved in gastric carcinogenesis, as ERBB2, which encodes for the tyrosine-kinase receptor HER-2. The aim of this work was to analyze the association of the polymorphisms: rs2643194, rs2517951, rs2643195, rs2934971, and rs1058808 with GC, as they have not yet been analyzed in GC patients, as well as to report their frequency in the general Mexican population (GMP). We studied genomic DNA from subjects with GC (n=74), gastric inflammatory diseases (GID, n=76 control subjects), and GMP (n=102). Genotypes were obtained by means of real-time PCR and DNA-sequencing. The risks for GC were estimated through odds ratio (OR) using the Cochran-Armitage trend test and multinomial logistic regression. Increased risk for GC was observed under the dominant inheritance model for the rs2643194 TT or CT genotypes with an OR of 2.75 (95%CI 1.12-6.75, P=0.023); the rs2934971 TT or GT genotypes with an OR of 2.41 (95%CI 1.01-5.76, P=0.043), and the rs1058808 GG or CG genotypes with an OR of 2.21 (95%CI 1.00-4.87, P=0.046). The SNPs rs2643194, rs2934971, and rs1058808 of the ERBB2 gene were associated with increased risk for GC.

The ERBB2 gene polymorphisms rs2643194, rs2934971, and rs1058808 are associated with increased risk of gastric cancer

Gastric cancer (GC) is the third most lethal type of cancer worldwide. Single nucleotide polymorphisms (SNPs) in regulatory sites or coding regions can modify the expression of genes involved in gastric carcinogenesis, as ERBB2, which encodes for the tyrosine-kinase receptor HER-2. The aim of this work was to analyze the association of the polymorphisms: rs2643194, rs2517951, rs2643195, rs2934971, and rs1058808 with GC, as they have not yet been analyzed in GC patients, as well as to report their frequency in the general Mexican population (GMP). We studied genomic DNA from subjects with GC (n=74), gastric inflammatory diseases (GID, n=76 control subjects), and GMP (n=102). Genotypes were obtained by means of real-time PCR and DNA-sequencing. The risks for GC were estimated through odds ratio (OR) using the Cochran-Armitage trend test and multinomial logistic regression. Increased risk for GC was observed under the dominant inheritance model for the rs2643194 TT or CT genotypes with an OR of 2.75 (95%CI 1.12−6.75, P=0.023); the rs2934971 TT or GT genotypes with an OR of 2.41 (95%CI 1.01−5.76, P=0.043), and the rs1058808 GG or CG genotypes with an OR of 2.21 (95%CI 1.00−4.87, P=0.046). The SNPs rs2643194, rs2934971, and rs1058808 of the ERBB2 gene were associated with increased risk for GC.

[Vascular adrenal cyst causing difficult to control high blood pressure]. / Hipertensión arterial mal controlada secundaria a quiste vascular suprarrenal.

Hypertension is a prevalent disease in developed countries. Adrenal masses, and especially adrenal cysts, are a rare and usually asymptomatic finding, which can go unnoticed or be detected as incidental findings in imaging tests. These circumstances make the multidisciplinary approach mandatory. The case is presented on a 72 year-old woman with uncontrolled high blood pressure referred to the Urology Department due to the incidental finding of a right retroperitoneal mass. A functional and imaging study was performed, establishing a diagnosis of adrenal cyst causing hypertensive symptoms. A literature search was performed in order to assess diagnostic and therapeutic approaches. With the diagnosis of adrenal cyst causing uncontrolled high blood pressure, a right laparoscopic adrenalectomy was performed. After surgery the patient has maintained blood pressure within the normal range. A multidisciplinary approach is necessary for the management of rare diseases. The surgical approach, if possible, should be laparoscopic.

[Results of pulmonary embolism treatment in a tertiary hospital short stay unit. Is this the right place?]. / Resultados del tratamiento médico de la embolia de pulmón en una unidad de corta estancia de un hospital de tercer nivel: ¿es el lugar adecuado?

OBJECTIVES: To determine the mean stay (MS) of patients with pulmonary embolism (PE) in a thrombosis unit (TU) with a short stay unit (SSU) in a tertiary hospital. To compare the data collected with those of other hospitals in the same region, of other regions (Autonomous Communities [AACC]), and within the same hospital in the year before the SSU opened. MATERIAL AND METHODS: A descriptive retrospective observational study that included patients with a diagnosis of PE in the University Hospital Virgen de la Arrixaca (HCUVA) in 2012. These data were classified by hospital department, and used for calculating the mean stay. This was then compared with that of other hospitals in our region, with the rest of the regions, and with the data in 2007 (the last year without a TU). RESULTS: A total of 113patients with PE were included, 60 (53%) in the TU with an MS of 4.39, in Oncology, 7.45, and Internal Medicine (IM), 15.38days. There were no deaths in the TU and only 3 (5%) readmissions. Published data showed that the MS in all hospitals in our region was 8.25, 5.18 in our hospital, and higher in the rest of hospitals. The best AACC was the Basque Country with an MS of 6.85days. In 2007, there were 70patients with PE in the HCUVA, 34 (49%) in IM, with an MS of 8.50, Oncology 11 (31%) with an MS 9.64, and Chest Diseases 3 (4.3%) with an MS 19days, and with an overall mortality of 11% and a rate of readmissions in IM of 6%. CONCLUSION: The mean stay for a PE in the SSU of a TU was lower than in the rest of the hospital departments, lower than the rest hospitals of our region, lower than the rest of the regions, and lower than any department of our hospital before the SSU existed, without increasing the readmission or mortality rate.

Rhabdomyolysis after initial session of indoor cycling: analysis of 11 patients.

AIM: The aim of this paper was to highlight the special frequency of cases of rhabdomyolysis related to the practice of indoor cycling and to define the characteristics, course, and outcome of this disease. METHODS: Retrospective review of clinical histories of patients diagnosed with rhabdomyolysis after indoor cycling in our unit from January 2012 to April 2013. RESULTS: Eleven patients were analyzed. All patients, regardless of the degree of previous physical training, were diagnosed after a first session of indoor cycling. Mean age was 27.63 years (SD=5.74). Fifty-four percent were women. Creatine kinase (CK) levels gradually decreased in response to rest and intensive intravenous hydration. Only in two cases was renal failure observed, and in none were electrolyte disorders, disseminated intravascular coagulation (DIC) or compartmental syndrome detected. CONCLUSION: A first session of indoor cycling has become a common cause of rhabdomyolysis secondary to the physical exercise in recent years, which should alert those responsible for teaching this sport of the need for a gradual start under adequate hydration and environmental conditions, because although the condition has a benign course with adequate treatment and the complication rate is low, there are patients with increased susceptibility to very high CK blood levels requiring hospitalization for treatment and follow-up of possible complications.

Influence of the IL17A locus in giant cell arteritis susceptibility.

OBJECTIVE: Different lines of evidence have highlighted the role of IL-17A in the inflammatory process occurring in giant cell arteritis (GCA). The aim of the present study was to assess whether the IL17A locus influences GCA susceptibility and its clinical subphenotypes. METHODS: We carried out a large meta-analysis including a total of 1266 biopsy-proven GCA patients and 3779 healthy controls from four European populations (Spain, Italy, Germany and Norway). Five IL17A polymorphisms (rs4711998, rs8193036, rs3819024, rs2275913 and rs7747909) were selected by tagging and genotyped using TaqMan assays. Allelic combination and dependency tests were also performed. RESULTS: In the pooled analysis, two of the five analysed polymorphisms showed evidence of association with GCA (rs2275913: PMH=1.85E-03, OR=1.17 (1.06-1.29); rs7747909: PMH=8.49E-03, OR=1.15 (1.04-1.27)). A clear trend of association was also found for the rs4711998 variant (PMH=0.059, OR=1.11 (1.00-1.23)). An independent effect of rs2275913 and rs4711998 was evident by conditional regression analysis. In addition, the haplotype harbouring the risk alleles better explained the observed association than the polymorphisms independently (likelihood p value <10(-05)). CONCLUSIONS: Polymorphisms within the IL17A locus show a novel association with GCA. This finding supports the relevant role of the Th17 cells in this vasculitis pathophysiology.

[Biological effect of controlled fluid hyperthermia on rabbit healthy bones]. / Efecto biológico de la hipertermia hídrica controlada sobre hueso sano de Conejos.

Fluid hyperthermia has been used to treat various types of cancers, but its effects on bone have not been determined. The purpose of this prospective study was to show the structural and metabolic changes of bone exposed to fluid hyperthermia and the effects of the latter on bone healing. Thirty New Zealand rabbits were used, weighting 2.8-3.2 kg; they were divided into 9 groups and 3 subgroups. An osteotomy was performed in the mid third of the right femur and this segment was exposed to hyperthermia at 15, 20 and 25 degrees centigrade for 50, 60 and 70 minutes. A bone scan was performed every 4 weeks and X-rays were taken every week up to week 13. The post-hoc Tukey test was used for the statistical analysis. Differences were found in the concentration of chemicals at temperatures above 60 degrees for 20 minutes with statistical significance; bone healing was delayed and there was evidence of metabolic activity. We conclude that exposure to temperatures above 60 degrees for 20 minutes resulted in morphologic alterations in potassium, magnesium, sulfur and phosphorus, and delayed bone healing. These results are used as parameters for the treatment of bone tumors with fluid hyperthermia.

Low frequency of Toll-like receptors 2 and 4 gene polymorphisms in Mexican patients and their association with type 2 diabetes.

Type 2 diabetes (T2D) is characterized by a chronic low-grade inflammatory state. SNP in Toll-like receptor (TLR) genes has been associated with impaired inflammatory response. We genotyped the TLR4/D299G, TLR4/T399I and TLR2/R753Q polymorphisms. Low frequency was found with no association with T2D, nevertheless the TLR2 SNP was associated with lower levels in HDL-cholesterol values.

Impact of preoperative levels of hemoglobin and albumin on the survival of pancreatic carcinoma.

INTRODUCTION: Pancreatic cancer presents the worst survival rates of all neoplasms. Surgical resection is the only potentially curative treatment, but is associated with high complication rates and outcome is bad even in those resected cases. Therefore, candidates amenable for resection must be carefully selected. Identification of prognostic factors preoperatively may help to improve the treatment of these patients, focusing on individually management based on the expected response. PATIENTS AND METHODS: We perform a retrospective study of 59 patients with histological diagnosis of pancreatic carcinoma between 1999 and 2003, looking for possible prognostic factors. RESULTS: We analyze 59 patients, 32 males and 27 females with a mean age of 63.8 years. All the patients were operated, performing palliative surgery in 32% and tumoral resection in 68%, including pancreaticoduodenectomies in 51% and distal pancreatectomy in 17%. Median global survival was 14 months (Range 1-110).We observed that preoperative levels of hemoglobin under 12 g/dl (p = 0.0006) and serum albumina under 2.8 g/dl (p = 0.021) are associated with worse survival. CONCLUSION: Preoperative levels of hemoglobin and serum albumina may be prognostic indicators in pancreatic cancer.

Impacto de los niveles preoperatorios de hemoglobina y albúmina en la supervivencia del carcinoma de páncreas / No disponible

Introducción: El cáncer de páncreas presenta la peor tasa de supervivencia de todas las neoplasias. La resección quirúrgica es el único tratamiento potencialmente curativo, pero está grabado con una alta tasa de complicaciones y el pronóstico continúa siendo malo en aquellos casos resecados, por lo que es necesario seleccionar bien a los candidatos. Por ello, la identificación de factores pronósticos de forma preoperatoria podría contribuir a mejorar el tratamiento de estos pacientes orientando hacia pautas más personalizadas en función de la respuesta esperable. Material y métodos: Realizamos un estudio retrospectivo de 59 pacientes con diagnóstico histológico de carcinoma de páncreas entre 1999 y 2003, para identificar posibles factores pronósticos. Resultados: De los 59 pacientes, 32 eran varones y 27 mujeres, con una edad media de 63,8 años. Todos los pacientes fueron operados, realizándose cirugía paliativa en el 32% y resección tumoral en el 68%, incluyendo duodenopancreatectomías cefálicas en el 51% y pancreatectomías distales en el 17%. La mediana de supervivencia global fue de 14 meses (intervalo 1-110). Observamos que los niveles preoperatorios de hemoglobina inferiores a 12 g/dl (p = 0,0006) y de albúmina sérica por debajo de 2,8 g/dl (p = 0,021) se asocian a menor supervivencia global. Conclusión: Los niveles preoperatorios de hemoglobina y albúmina pueden ser indicadores pronósticos en el cáncer de páncreas(AU)

Introduction: Pancreatic cancer presents the worst survival rates of all neoplasms. Surgical resection is the only potentially curative treatment, but is associated with high complication rates and outcome is bad even in those resected cases. Therefore, candidates amenable for resection must be carefully selected. Identification of prognostic factors preoperatively may help to improve the treatment of these patients, focusing on individually management based on the expected response. Patients and methods: We perform a retrospective study of 59 patients with histological diagnosis of pancreatic carcinoma between 1999 and 2003, looking for possible prognostic factors. Results: We analyze 59 patients, 32 males and 27 females with a mean age of 63,8 years. All the patients were operated, performing palliative surgery in 32% and tumoral resection in 68%, including pancreaticoduodenectomies in 51% and distal pancreatectomy in 17%. Median global survival was 14 months (Range 1-110). We observed that preoperative levels of hemoglobin under 12 g/dl (p = 0,0006) and serum albumina under 2,8 g/dl (p = 0,021) are associated with worse survival. Conclusion: Preoperative levels of hemoglobin and serum albumina may be prognostic indicators in pancreatic cancer(AU)

Arthroscopic treatment of the snapping iliopsoas tendon through the central compartment of the hip: a pilot study.

We undertook a prospective pilot study to determine whether arthroscopic surgery through the central compartment of the hip was effective in the management of a snapping iliopsoas tendon. Seven patients were assessed pre-operatively and at three, six, 12 and 24 months after operation. This included the assessment of pain on a visual analogue scale (VAS) and function using the modified Harris hip score. All the patients had resolution of snapping post-operatively and this persisted at follow-up at two years. The mean VAS score for pain fell from 7.7 (6 to 10) pre-operatively to 4.3 (0 to 10) by three months (p = 0.051), and to 3.6 (1 to 8) (p = 0.015), 2.4 (0 to 8) (p = 0.011) and 2.4 (0 to 8) (p = 0.011) by six, 12 and 24 months, respectively. The mean modified Harris hip score increased from 56.1 (13.2 to 84.7) pre-operatively to 88.4 (57.2 to 100) at one year (p = 0.018) and to 87.9 (49.5 to 100) at two years (p = 0.02). There were no complications and no weakness occurred in the musculature around the hip. Our findings suggest that this treatment is effective and would support the undertaking of a larger study comparing this procedure with other methods of treatment.

Amplification of human genomic sequences by human papillomaviruses universal consensus primers.

Detection of human papillomaviruses DNA (HPV) in tumour samples is often determined by a PCR based approach with standard universal consensus oligonucleotides. It is shown that these primers under the same amplification conditions can amplify a human genomic sequence of 1361 nucleotides in oral carcinomas and normal DNA samples. This sequence is detected more easily as the copy number of HPV DNA decreases. Therefore, in tumour samples that have a low copy number of HPV or that are contaminated by normal tissue there is a potential risk of misidentification of the presence of HPV if this observation is not taken into account.

Sex specific proteins and proteases present in the midguts of Anopheles albimanus (Diptera: Culicidae).

Proteins and proteases present in midgut tissues of sugar-fed Anopheles albimanus (Wiedemann) males and females were studied by 2-dimensional electrophoresis and zymograms using gelatin and hemoglobin as substrates. Protein patterns differed between sexes. Some proteins were similar in both sexes, but differed in intensity. Sex specific proteins and midgut proteases also were detected. These findings indicate the possibility of sex dependent regulation of midgut proteins and protease production.

[Prevalence of antibodies against HIV in drug addicts and convicts]. / Prevalencia de anticuerpos frente a VIH en drogadictos y reclusos.

The presence of anti-HIV (human immunodeficiency virus) antibodies was determined in 325 subjects. The samples were taken from 138 convicts from Carabanchel and Ocaña I jail, 162 parenteral drug addicts (PDA) from a center for rehabilitation of drug addicts (CR), and from 14 family members and 11 stable couples of these PDAs. There was a global seroprevalence of 61.23%, 56.9% in Carabanchel, 68.7% in Ocaña I and 68.5% in the CR. When the results from the jailed convicts were analyzed according to risk factors, it was discovered that drug addiction was the most relevant since there was only a 29.4% of seropositivity in non PDAs with a statistically significant difference (p less than 0.01). This value was also higher than the seroprevalence found in the CR with a statistically significant difference (p less than 0.01). None of the family members of the CR were HIV-positive. Two stable couples were positive in this sexual contact group. This article makes clear the important role of drug addiction in the dispersion of HIV infection in our midst.