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The objective of the study was to analyze the relationship between individual socioeconomic characteristics and cigarette consumption in Spain. The sample consisted of 19,931 individuals aged 15 or older who completed the European Health Interview Survey for Spain (EHSS-2014). Variables: prevalence and intensity of cigarette consumption. Multivariate ordered logistic regression analysis was performed with the following socioeconomic variables: social classes, educational attainment, main activity, economic situation and, for the working population, the activity sector. Other control variables were sociodemographic variables and healthy lifestyle habits (physical exercise, diet and alcohol consumption). The factors that relate to greater prevalence are: lower social class, not having university studies, being unemployed, having worse economic situation and working in hospitality industry. On the other hand, the variables related to higher intensity of cigarette consumption of the smoking population are: lower social class, not having university studies, and being neither a student nor on a permanent contract. Regarding control variables, those regressors associated with a higher prevalence and intensity of cigarette consumption are: being male, being aged between 36 and 65, being divorced, having fewer children at home and having worse lifestyle habits.

Introduction: Clostridium difficile causes nosocomial infections leading to high morbidity and mortality. The NAP1/027 strain is associated with a higher toxin production and disease severity, which increases the load of the disease. Objective: To describe the epidemiology of the infections associated with C. difficile and the characteristics related to the NAP1/027 strain. Materials and methods: This was an observational study based on the revision of clinical registries of patients with fecal samples that were positive for C. difficile identified by the Xpert test™ between 2012 and 2015 in a high complexity institution. The severity of the disease was evaluated by means of the ATLAS score. Results: We included 42 infected cases, 9 of which were positive for the NAP1/027strain. The use of antibiotics previous to the infection for more than seven days was more frequent in patients with negative results for NAP1/027. The duration of diarrhea in half of the patients was longer than five days and there were no differences according to the type of strain (p>0.05). Positive cases for the NAP1/027 strain were characterized by presenting fetid and bloody stools. The severity of the infection was similar between the groups. Conclusions: In Colombia, the NAP1/027 strain circulates without significant clinical differences, which could be due to the limited number of patients. Nevertheless, the existence of NAP1/027 should alert physicians and health institutions because of its high association with severity and mortality.

Objective: To develop recommendations on the evaluation and management procedure in patients undergoing total knee replacement based on best evidence and the experience of a panel of experts., Methods: A multidisciplinary group of 12 experts was selected that defined the scope, users and the document parts. Three systematic reviews were performed in patients undergoing knee replacement: (i)efficacy and safety of fast-tracks; (ii)efficacy and safety of cognitive interventions in patients with catastrophic pain, and (iii) efficacy and safety of acute post-surgical pain management on post-surgical outcomes. A narrative review was conducted on the evaluation and management of pain sensitization, and about the efficacy and safety of pre-surgical physiotherapy. The experts generated the recommendations and explicative text. The level of agreement was evaluated in a multidisciplinary group of 85 experts with the Delphi technique. The level of evidence was established as well for each recommendation., Results: A total of 20 recommendations were produced. An agreement higher than 80% was reached in all of them. We found the highest agreement on the need for a full discharge report, on providing proper information about the process and on following available guidelines., Conclusions: There is consensus among professionals involved in the management of patients undergoing total knee replacement, in that it is important to protocolize the replacement process, performing a proper, integrated and coordinated patient evaluation and follow-up, paying special attention to the surgical procedure and postoperative period., (Copyright © 2017 SECOT. Publicado por Elsevier España, S.L.U. All rights reserved.)

Background and Aims: The "DAT-AP" (from the Spanish, "Dislipemia ATerogénica en Atención Primaria", for Atherogenic Dyslipidaemia in Primary Care) study objective is to determine to what extent published consensus guidelines for the diagnostic and therapeutic management of AD are used in the primary care setting, and to evaluate the approach of the participating physicians towards the detection, diagnosis, and treatment of AD., Methods: This is descriptive, cross-sectional, multicentre study performed between January and May 2015 in primary care centres throughout Spain. Study data were collected in 2 independent blocks, the first addressing theoretical aspects of AD and the second, practical aspects (clinical cases) RESULTS: The theoretical part is in the process of publication. This manuscript depicts the clinical cases block. Although study participants showed good knowledge of the subject, the high prevalence of this disease requires an additional effort to optimise detection and treatment, with the implementation of appropriate lifestyle interventions and the prescription of the best treatment., (Copyright © 2017 Sociedad Española de Arteriosclerosis. Publicado por Elsevier España, S.L.U. All rights reserved.)

Introduction: Duchenne muscular dystrophy (DMD) is a severe X-linked recessive neuromuscular disease that affects one in 3500 live-born males. The total absence of dystrophin observed in DMD patients is generally caused by mutations that disrupt the reading frame of the DMD gene, and about 80% of cases harbour deletions or duplications of one or more exons., Methods: We reviewed 284 cases of males with a genetic diagnosis of DMD between 2007 and 2014. These patients were selected from 8 Spanish reference hospitals representing most areas of Spain. Multiplex PCR, MLPA, and sequencing were performed to identify mutations., Results: Most of these DMD patients present large deletions (46.1%) or large duplications (19.7%) in the dystrophin gene. The remaining 34.2% correspond to point mutations, and half of these correspond to nonsense mutations. In this study we identified 23 new mutations in DMD: 7 large deletions and 16 point mutations., Conclusions: The algorithm for genetic diagnosis applied by the participating centres is the most appropriate for genotyping patients with DMD. The genetic specificity of different therapies currently being developed emphasises the importance of identifying the mutation appearing in each patient; 38.7% of the cases in this series are eligible to participate in current clinical trials., (Copyright © 2016 Sociedad Española de Neurología. Publicado por Elsevier España, S.L.U. All rights reserved.)

Precision Medicine is an emerging approach for the diagnosis, treatment and prognosis of genetic diseases that enables clinicians to more accurately predict which treatment strategy will be optimal in a patient. The aim of Precision Medicine in Oncology is to integrate clinical, histological, and molecular data in order to obtain a deeper knowledge about the biology and genetics of an individual's tumour. Over the last few years, the implementation of new NGS (Next Generation Sequencing) technologies into clinical practice has been essential. There is a wide variety of NGS techniques that can be used in this context. The correct interpretation of molecular changes detected by these techniques is paramount for their appropriate use. In this review, a discussion is presented on the main NGS sequencing technologies that can be used to improve the diagnosis, prognosis, and treatment of oncology patients., (Copyright © 2016 Asociación Española de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.)

Objective: To develop recommendations, based on best evidence and experience, on pain management in patients undertaking total knee or hip replacement., Methods: Nominal group methodology was followed. A group of experts was selected (5 orthopedics, 1 anesthesiologist), who defined the scope, users, topics, preliminary recommendations, and 3 systematic reviews: efficacy and safety of pre-surgical analgesia regarding to post-surgical pain, efficacy and safety of pre-emptive analgesia and pre-operative factors of post-operative pain. The level of evidence and grade of recommendation was established using the Oxford Centre for Evidence Based Medicine, and the level of agreement with the Delphi technique (2 rounds). The Delphi was extended to 39 orthopedics and anesthesiologists. The whole document was reviewed by all the experts., Results: A total of 21 recommendations were produced. They include specific pharmacological treatment, as well as the evaluation and monitoring of patients on this treatment, and post-operative pre-emptive treatment. Agreement above 70% was reached in 19 recommendations., Conclusions: In patients undergoing total knee or hip replacement, a proper evaluation, follow-up, pharmacological and non-pharmacological treatment of predictors of poor surgical outcomes should be performed, especially those related to pre-operative pain. This can improve post-operative pain and surgery outcomes., (Copyright © 2014 SECOT. Published by Elsevier Espana. All rights reserved.)

The combination with fixed doses of pravastatin (40 mg) and fenofibrate (160 mg) offers a therapeutic alternative, especially in the comprehensive approach to mixed hyperlipidemia in patients with high cardiovascular risk of metabolic origin. It also ensures the efficacy and safety as a result of the evidence that supports the clinical benefit of both pravastatin in primary and secondary prevention and fenofibrate in patients with atherogenic dyslipidemia. This combination also has few adverse effects, which are similar in all cases to those produced by the isolated monotherapy of each of the drugs. Consequently, the possible indications for this combination include patients with mixed hyperlipidemia, patients with atherogenic dyslipidemia (increased triglyceride levels, reduced HDL-c levels and moderately increased LDL-c levels), patients with hypertriglyceridemia who need to reduce their LDL-c levels, patients with low HDL syndrome who also require a reduction in LDL-c levels, patients with moderate hypercholesterolemia who require an additional reduction of triglyceride levels and especially patients with high atherogenic metabolic risk who require an overall intervention for each of the lipid fractions., (Copyright © 2014 Sociedad Española de Arteriosclerosis y Elsevier España, S.L. All rights reserved.)

Esophageal atresia is a rare condition (1:2,500-4,500), incompatible with life, and a surgical emergency in the neonatal period. It is associated with prematurity in 30% of cases, and to congenital abnormalities in 50% of cases, especially cardiac anomalies. Major congenital heart diseases and low weight are independent predictors of mortality and critical perioperative events. The aim of this article is to describe the most significant anaesthetic challenges presented in a case of a term neonate undergoing emergency surgery after being diagnosed with esophageal atresia, tracheoesophageal fistula type iiib/C, and imperforate anus. The major priorities during the anaesthetic management consist of establishing a safe airway and effective pulmonary ventilation that minimises air leakage to the upper digestive tract., (Copyright © 2012 Sociedad Española de Anestesiología, Reanimación y Terapéutica del Dolor. Published by Elsevier España. All rights reserved.)

Introduction: Aniridia is a panocular disorder which occurs in 1/50,000 to 1/100,000 live births and can appear either in isolated form or in the context of a syndrome. Isolated aniridia is inherited as an autosomal dominant condition and is caused by mutations of the PAX6 gene. A variety of techniques and methodologies within molecular genetics and cytogenetics are used to study these mutations., Objective: To identify the different aspects of this disease and to provide a guide for proper genetic diagnosis leading to improved clinical management of the disease., Development: Aniridia is an autosomal dominant disease that primarily affects the iris, though it can impact most of the ocular structures. The disease is mainly caused by mutations in the PAX6 gene located on chromosome 11p13 which encodes a transcription factor that is involved in the development of the eye. Genetic analysis of aniridia is complex and requires the use of both molecular genetics and cytogenetics techniques. These procedures are indicated in all cases of aniridia. It is important bear certain clinical and technical aspects in mind prior to starting analysis or providing genetic counseling for patients and their families., Conclusions: The use of molecular genetic techniques in the genetic diagnosis of aniridia enables patients and their families to receive better clinical management., (Copyright © 2011 Sociedad Española de Oftalmología. Published by Elsevier Espana. All rights reserved.)

The use of deep (intratumoral, peritumoral) and superficial (subdermal, subareolar) administration is recognized as valid in sentinel lymph node biopsy for breast cancer. Herein, we are presenting a clinical case in which a personalized methodology was a determining factor in axillary staging. Initially, the radiotracer was injected intratumorally guided by ultrasound. The ultrasound scan identified a previously unknown axillary lymphadenopathy, with focal cortical thickening, this being a non-specific ultrasound finding, but with possibility of biopsy. The lymphoscintigraphy did not show uptake in the mentioned node, hence, a second subareolar dose was administered. On this occasion, the lymphoscintigraphy detected drainage to the sentinel node, which was the only one positive for micrometastases., (Copyright © 2010 Elsevier España, S.L. y SEMNIM. All rights reserved.)

Purpose: Inherited retinal dystrophies and hearing loss disorders have a broad clinical and genetic heterogeneity. Over the last decade there have been major advances in our understanding of the molecular pathology of these diseases; currently over 200 genes and loci are known to be involved in retinal disorders, and over 60 genes/loci are causative for hearing impairment., Methods: Genetic testing is crucial for confirming the diagnosis at a molecular level. It also allows a more precise prognosis to be made of the future clinical evolution, as well as an accurate genetic and reproductive counselling, and raises the possibility of creating genetically homogeneous groups of patients for future clinical trials., Results: The high number of genes responsible for these disorders makes molecular testing overwhelming in terms of cost, time and technical effectiveness, and no centre offers testing of all known genes. Several diagnostic tools have emerged recently to circumvent this problem., Conclusions: In this report, we review the vast genetic heterogeneity of retinal dystrophies and hypoacusis, recent advances in gene discovery, the different DNA-based microarray technologies available for molecular testing, their benefits and limitations, and novel therapeutic approaches.

Introduction: Acute gastroenteritis (AGE) in infants has a significant impact on the quality of life of their parents., Material and Methods: Cross-sectional study on the sociological family impact related to rotavirus AGE in children under 2 years. The study was carried out in 25 hospitals and 5 primary care centres in Spain. Sociodemographic, epidemiological and clinical data were recorded, as well as the symptomatology of AGE and its severity measured by the Clark scale. Stool samples were tested to determine rotavirus positive (RV+) or negative (RV-). The parents were asked to complete a a family impact questionnaire., Results: Stool specimens were tested in 1087 AGE cases (584 RV+ vs 503 RV-). The 99.5 % of parents whose children were RV+ reported more worries vs. the 97.7 % of RV-, and RV+ had a higher importance score (p < 0.05). A higher percentage of RV+ parents and those with a high importance score reported more time dedicated to dehydration treatment (p < 0.05). The 82.5 % vs. 73.9 % had disruption of their household tasks, with more importance scores (p < 0.05). RV+ had a higher percentage and importance score than RV- ones in all aspects of their child's AGE symptoms, except loss of appetite., Conclusion: AGE produces important dysfunctional experiences in daily family life. According to parental perceptions, RV+ produces greater worries and dysfunctions in child behaviour.

A history of spinal surgery is not currently considered a contraindication for regional obstetric analgesia. However, there are highly complex cases in which choosing the best analgesic technique presents genuine problems. We report the case of a woman in labor at full-term with 4-cm dilatation of the cervix who had undergone 3 operations for scoliosis and a herniated disk treated by T5-L4 and L4-sacral arthrodesis, laminectomy, and diskectomy. No previous anesthetic plan was in place, so we chose intravenous patient-controlled analgesia for labor and vaginal delivery and spinal anesthesia for a cesarean delivery. However, general anesthesia became necessary because it was impossible to reach the dura mater. The literature was reviewed to assess alternative forms of obstetric analgesia for patients who have undergone scoliosis surgery.

Introduction: It is now recognized that most, if not all, cases of spontaneous intracraneal hypotension result from spontaneous cerebrospinal fluid (CSF) leaks. The exact cause of spontaneous leak often remains unclear. However, two factors are typically considered: trivial trauma and weakness of the dural sac., Clinical Case: A 61-year-old woman came with a one week history of orthostatic headache. The neurologic examination and funduscopy were normal. Brain contrast- enhanced magnetic resonance imaging (MRI) showed subdural fluid collections and diffuse pachymeningeal enhancement. Cervical-dorsal-lumbar MRI showed a dilated spinal venous plexus throughout the canal. Computed tomography (CT) myelography demonstrated perineural cysts at the level of D7, D8, D9 and D10. The right D10 cysts was broken with extravasation of contrast medium into the extradural space. Three months later, after rest and hydration, the patient was asymptomatic. The brain and dorsal MRI, four months later were normal., Conclusions: Spontaneous CSF leaks from broken perineural cysts has been exceptionally demonstrated. CT myelography should be employed to detect the involved site.

Usher syndrome includes hereditary pathologies characterized by bilateral sensorineural deafness and visual impairment due to retinitis pigmentosa. Clinically, there are three distinct subtypes referred to as USH1, USH2, and USH3. Each subtype is genetically heterogeneous. Eleven different genes are implicated in the pathology; most of them are also implicated in isolated auditory or visual pathologies. MYO7A is responsible of 75% of the USH1 cases and Usherin is responsible of 82% of USH2A patients. The proteins have direct interactions with each other, are expressed in cochlea and retina and perform an essential role in stereocilia homeostasis. From 1995 we approach the study of Usher syndrome in Spain from different points of view: epidemiological, clinic, genetic and molecular. This study will provide additional insight into the pathogenic process involved in Usher syndrome, prognosis factors, and guide to the search for targeted therapies.

Usher syndrome (USH) associates deafness and retinitis pigmentosa (RP). It is a disease both clinically and genetically heterogeneous. It is inherited as an autosomal recessive trait and its prevalence makes it the most frequent association of hearing loss and RP. Clinically Usher syndrome is divided into type I (USH1), II (USH2) and III (USH3), according to the severity of hearing loss, age of onset of RP and the existence or not of vestibular dysfunction. There are at least 7 different localizations for USH1 and 5 genes have been identified. For USH2, 3 loci and 2 genes have been reported and USH3 is due to Clarin-1 gene. Our aim is to perform a clinical and genetic characterization of all Usher syndrome patients in Spain.

Case Report: We present a 43 year-old man with hypertension, diabetes and hypercholesterolemia who suffered an inferior temporal branch retinal vein occlusion in his right eye (visual acuity: counting fingers). An arteriovenous adventitial sheathotomy was made but the vein was perforated during surgery. The eye fundus and his final visual acuity improved (20/40) in spite of the complication., Discussion: We comment the published experiences with this surgery and its complications.

Introduction: Over the past decade, from the genetic point of view, several of the entities included in the group of hereditary ataxias have been identified. We report a Spanish family with type 8 spinocerebellar ataxia (SCA8), one of the most recent hereditary ataxias to be described from the clinical and genetic points of view., Clinical Case: A 59 year old woman consulted us complaining of progressive dysarthria and unsteady gait. The only abnormal findings on neurological examination were those of cerebellar involvement. The patient s mother had a similar condition, characterized by difficulty in speaking which started when she was 62 years old and progressed to anarthria. Cranial magnetic resonance showed the presence of cerebellar atrophy with no signs of atrophy of the brainstem. On electromyographic studies there were no signs of neuropathy. Visual, auditory and sensory evoked potentials were normal. Genetic studies showed expansion of trinucleotide CTG (112 repetitions in the expanded allele and 28 repetitions in the normal allele) on the gene responsible for SCA8., Conclusion: SCA8 should be included in the differential diagnosis of progressive cerebellar syndromes, especially when changes in speech predominate with regard to other cerebellar signs.

Parapharyngeal abscesses are located between the skull base and the hyoid bone. Their infrahyoid extension is usually following the retropharyngeal space, but also can be through the medial aspect of the parapharyngeal space. Thus, surrounding the visceral fascia, they might invade the perilaryngeal and perihypopharyngeal spaces. This results in more significant airway compromise. Computed tomography is essential while locating and evaluating the extension of these infections, specially with regards to the great vessels. We report on 8 parapharyngeal abscesses with perilaryngeal and/or perihypopharyngeal extension. We review their clinical and radiological features, based on computed tomography, as well as their medical and surgical treatment. When medical therapy fails, as they are usually medial to the great vessels, it is possible to perform aspiration and drainage transorally, avoiding the need for cervicotomy, in selected cases.

We report the cases of two patients, 5 and 4 months of age, without clinically important antecedents, that were hospitalized with a bronchiolitis syndrome. In the respiratory samples (nasopharynx aspirates) of both patients we isolated Ureaplasma urealyticum in pure culture and with a quantitative count > 10(3) cfu/ml. Vaginal cultures of mothers were negative. The patients were treated with fluid therapy and salbutamol, and after the respiratory cultures were reported positive, with erythromycin for 7 days. Because of the age of the patients (not in the neonatal period) and the type of respiratory syndrome (bronchiolitis), it is very difficult to evaluate the real clinical significance of these isolations. We review the respiratory pathology caused by U. urealyticum during the neonatal period and we recommend the need for a multicenter study about the clinical significance of this microorganism in children under one year of age.

Among relatives of parturients of Majorca island a statistically higher prevalence of HBV markers was found among children (22.8%) and husbands (43.8%) of 49 HBsAg chronic carriers as compared to 2.7% and 19.2%, respectively, among the corresponding relatives of 79 susceptible controls. Prevalence of the carrier state was 0% among both children and husbands of susceptible women, 2.1% (NS) and 11.4% (p less than 0.0001) among husbands and children, respectively, of chronic carrier parturients with a proportion of chronic antigenemia among subjects with HBV markers, that reaches 50% in children and only 4.8% (p less than 0.01) in adults. Following active-passive immunization, an active response of anti-HBs (3.4%), and HBsAg (1.7%), was achieved, after 12 months of follow-up, in 59 newborns of chronic carrier parturients. Detection of HBsAg prior to delivery as well as immunization both of newborns and susceptible household contacts of chronic carrier mothers should become general.