Acute haematogenous septic arthritis of a lumbar facet joint in an otherwise healthy adolescent.

Facet joint septic arthritis is a rare cause of spinal infection in children with only four cases reported. The transmission pathway is believed to be haematogenous in 72% of cases. The authors present the case of a 13-year-old boy hospitalised for acute lumbosciatalgia, limp and fever, with pain upon palpation of the paravertebral muscles, a positive Laségue signal and elevated serum inflammatory markers.

Cohort study showed that growth rate increment has not been enough to prevent growth retardation of preterm infants and raised concerns about unbalanced growth.

Aim: We describe the postnatal weight gain, linear and head growth trends of surviving preterm infants from 2005 to 2017.

Methods: Multicentre cohort study, including surviving preterm infants <32 weeks (n = 21 084), from the Spanish Neonatal Network database, without major congenital malformations who were less than 50 weeks postmenstrual age at discharge. Outcomes were weight gain (g/kg/day), linear and head growth (cm/week) and changes in weight, length and head circumference z-scores from birth to discharge.

Home parenteral nutrition provision modalities for chronic intestinal failure in adult patients: An international survey.

Background & Aims: The safety and effectiveness of a home parenteral nutrition (HPN) program depends both on the expertise and the management approach of the HPN center. We aimed to evaluate both the approaches of different international HPN-centers in their provision of HPN and the types of intravenous supplementation (IVS)-admixtures prescribed to patients with chronic intestinal failure (CIF).

Methods: In March 2015, 65 centers from 22 countries enrolled 3239 patients (benign disease 90.

The Effect of Morbidity and Sex on Postnatal Growth of Very Preterm Infants: A Multicenter Cohort Study.

Background: Extrauterine growth restriction is common in the preterm infant, and it is associated with poor neurodevelopment. Nutrition plays an important role in postnatal growth, but growth is also influenced by other factors like co-morbidity, and, also, there might be sex differences.

Methods: This is a cohort study including preterm infants < 32 weeks at birth (n = 21,825) from the Spanish Neonatal Network database.

Behçet's disease and genetic interactions between HLA-B*51 and variants in genes of autoinflammatory syndromes.

Behçet's disease (BD) is an immune-mediated systemic disorder with a well-established genetic base. In a previous study, using a next generation sequencing approach, we found many rare variants and some functional polymorphisms in genes related to autoinflammatory syndromes (AID): CECR1, MEFV, MVK, NLRP3, NOD2, PSTPIP1 and TNFRSF1A in our BD cohort. Our strategy did not allow us to establish either number of patients with variants, proportion of individuals accumulating them or relationship with other genetic factors.

Distal radial torus fracture in an adult. A new type of occult wrist fracture?

Torus or buckle fractures typically affect children who have suffered indirect minor wrist injuries. They are axial compression-type metaphyseal fractures of cortical and cancellous bone, which are stable and their treatment therefore consists in immobilisation of the joint for three to four weeks. We present an atypical case of distal radius torus fracture in a 19-year-old adult male, which has not been previously reported in adults and can be considered a new type of occult fracture.

Burden of cancer attributable to obesity, type 2 diabetes and associated risk factors.

Overweight and obesity constitute a global pandemic with devastating consequences that affect >2 billion people. Obesity plays a central role in morbidity and mortality of diseases of multiple organs and systems, and it is a major contributor to the growing incidence of cancer. There is now sufficient level of evidence for the association between overweight and 11 types of cancer, among which are two of the most common cancers worldwide, those of the colorectum and postmenopausal breast.

Unraveling the effect of silent, intronic and missense mutations on splicing: contribution of next generation sequencing in the study of mRNA.

Large studies in von Willebrand disease patients, including Spanish and Portuguese registries, led to the identification of >250 different mutations. It is a challenge to determine the pathogenic effect of potential splice site mutations on mRNA. This study aimed to elucidate the true effects of 18 mutations on mRNA processing, investigate the contribution of next-generation sequencing to mRNA study in von Willebrand disease, and compare the findings with prediction.

A novel panel of short mononucleotide repeats linked to informative polymorphisms enabling effective high volume low cost discrimination between mismatch repair deficient and proficient tumours.

Somatic mutations in mononucleotide repeats are commonly used to assess the mismatch repair status of tumours. Current tests focus on repeats with a length above 15bp, which tend to be somatically more unstable than shorter ones. These longer repeats also have a substantially higher PCR error rate, and tests that use capillary electrophoresis for fragment size analysis often require expert interpretation.

Severe, life-threatening phenotype of primary Sjögren's syndrome: clinical characterisation and outcomes in 1580 patients (GEAS-SS Registry).

Objectives: To analyse the clinical features and outcomes of patients presenting with life-threatening systemic disease in a large cohort of Spanish patients with primary Sjögren's syndrome (SS).

Methods: The GEAS-SS multicentre registry was formed in 2005 with the aim of collecting a large series of Spanish patients with primary SS, and included more than 20 Spanish reference centres with substantial experience in the management of SS patients. By January 2018, the database included 1580 consecutive patients fulfilling the 2002 classification criteria for primary SS.

Early Predictors of Abdominal Hemorrhage Among Critically Ill Patients With Pancreatitis: A Prospective Cohort Study.

Objective: To establish incidence, risk factors, and prognostic implications of abdominal hemorrhage (AH) among critically ill patients with acute pancreatitis (AP).

Methods: Prospective cohort study in 46 intensive care units aimed at describing the characteristics of critically ill patients with AP (Epidemiología de la Pancreatitis Aguda en Medicina Intensiva Study). Adult patients with AP and at least 1 organ failure were included.

Role of multimeric analysis of von Willebrand factor (VWF) in von Willebrand disease (VWD) diagnosis: Lessons from the PCM-EVW-ES Spanish project.

The multimeric analysis (MA) of plasma von Willebrand factor (VWF) evaluates structural integrity and helps in the diagnosis of von Willebrand disease (VWD). This assay is a matter of controversy, being considered by some investigators cumbersome and only slightly informative. The centralised study 'Molecular and Clinical Profile of von Willebrand Disease in Spain (PCM-EVW-ES)' has been carried out by including the phenotypic assessment and the genetic analysis by next generation sequencing (NGS) of the VWF gene (VWF).

Clinical characteristics and type of antithrombotic treatment in a Spanish cohort of elderly patients with atrial fibrillation according to dependency, frailty and cognitive impairment.

Background: Available data regarding clinical profile and management of elderly patients with atrial fibrillation (AF) according to dependency, fragility and cognitive impairment are scarce. The objective of the study was to analyze the biodemographic data, clinical profile and antithrombotic treatment according to dependency, fragility and cognitive impairment in elderly AF patients.

Methods: Cross-sectional and multi-center study performed in consecutive AF patients ≥ 75 years treated with oral anticoagulants ≥ 3 months attended in Internal Medicine Departments in Spain.

Positioning document on incorporating point-of-care ultrasound in Internal Medicine departments.

This positioning document describes the most important aspects of clinical ultrasonography in the internal medicine setting, from its fundamental indications to the recommended training period. There is no question as to the considerable usefulness of this tool in the standard clinical practice of internists in numerous clinical scenarios and settings (emergencies, hospital ward, general and specific consultations and home care). Ultrasonography has a relevant impact on the practitioner's ability to resolve issues, increasing diagnostic reliability and safety and providing important information on the prognosis and progression.

Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): comprehensive genetic analysis by next-generation sequencing of 480 patients.

Molecular diagnosis of patients with von Willebrand disease is pending in most populations due to the complexity and high cost of conventional molecular analyses. The need for molecular and clinical characterization of von Willebrand disease in Spain prompted the creation of a multicenter project (PCM-EVW-ES) that resulted in the largest prospective cohort study of patients with all types of von Willebrand disease. Molecular analysis of relevant regions of the , including intronic and promoter regions, was achieved in the 556 individuals recruited the development of a simple, innovative, relatively low-cost protocol based on microfluidic technology and next-generation sequencing.

Association between CFH, CFB, ARMS2, SERPINF1, VEGFR1 and VEGF polymorphisms and anatomical and functional response to ranibizumab treatment in neovascular age-related macular degeneration.

Purpose: We sought to determine if specific genetic single nucleotide polymorphisms (SNPs) influence vascular endothelial growth factor inhibition response to ranibizumab in neovascular age-related macular degeneration (AMD).

Methods: A total of 403 Caucasian patients diagnosed with exudative AMD were included. After a three-injection loading phase, a pro re nata regimen was followed.

Mutational profile of rare variants in inflammasome-related genes in Behçet disease: A Next Generation Sequencing approach.

Behçet's disease (BD) is an immune-mediated systemic disorder with a well-established association with HLA class I and other genes. BD has clinical overlap with many autoinflammatory diseases (AIDs). The aim of this study was to investigate the role of rare variants in seven genes involved in AIDs: CECR1, MEFV, MVK, NLRP3, NOD2, PSTPIP1 and TNFRSF1A using a next generation sequencing (NGS) approach in 355 BD patients.

Quality of life in home-ventilated children and their families.

Unlabelled: HMV (home mechanical ventilation) in children has increased over the last years. The aim of the study was to assess perceived quality of life (QOL) of these children and their families as well as the problems they face in their daily life.We performed a multicentric cross-sectional study using a semi-structured interview about the impact of HMV on families and an evaluation questionnaire about perceived QOL by the patient and their families (pediatric quality of life questionnaire (PedsQL4.

A selective screening program for the early detection of mucopolysaccharidosis: Results of the FIND project - a 2-year follow-up study.

The mucopolysaccharidoses (MPSs) are underdiagnosed but they are evaluated in few newborn screening programs, probably due to the many challenges remaining, such as the identification of late-onset phenotypes. Systematic screening at the onset of clinical symptoms could help to early identify patients who may benefit from specific treatments. The aim of this prospective study was to assess a novel selective screening program, the FIND project, targeting patients aged 0 to 16 years with clinical manifestations of MPS.

Clinical classification of adult patients with chronic intestinal failure due to benign disease: An international multicenter cross-sectional survey.

Background & Aims: The aim of the study was to evaluate the applicability of the ESPEN 16-category clinical classification of chronic intestinal failure, based on patients' intravenous supplementation (IVS) requirements for energy and fluids, and to evaluate factors associated with those requirements.

Methods: ESPEN members were invited to participate through ESPEN Council representatives. Participating centers enrolled adult patients requiring home parenteral nutrition for chronic intestinal failure on March 1st 2015.

Characterization and risk estimate of cancer in patients with primary Sjögren syndrome.

Background: The purpose of this study is to characterize the risk of cancer in a large cohort of patients with primary Sjögren syndrome (SjS).

Methods: We had analyzed the development of cancer in 1300 consecutive patients fulfilling the 2002 SjS classification criteria. The baseline clinical and immunological characteristics and systemic activity (ESSDAI scores) were assessed at diagnosis as predictors of cancer using Cox proportional hazards regression analysis adjusted for age at diagnosis and gender.

PTPN22 is not associated with Behçet's disease. Study spanning the complete gene region in the Spanish population and meta-analysis of the functional variant R620W.

Objectives: The functional variant R620W of the protein tyrosine phosphatase non receptor-22 (PTPN22) gene plays an important role in susceptibility to several immuno-mediated pathologies. Behçet's disease (BD) is a complex disease related to the immune system with a demonstrated genetic base. The HLA class I genes are the most important genetic factors in BD although other genes are also involved in the susceptibility to this disease.