Association analysis in a Latin American population revealed ethnic differences in rheumatoid arthritis-associated SNPs in Caucasian and Asian populations.

Large genome-wide association studies (GWAS) have increased our knowledge of the genetic risk factors of rheumatoid arthritis (RA). However, little is known about genetic susceptibility in populations with a large admixture of Amerindian ancestry. The aim of the present study was to test the generalizability of previously reported RA loci in a Latin American (LA) population with admixed ancestry. We selected 128 single nucleotide polymorphisms (SNPs) in linkage equilibrium, with high association to RA in multiple populations of non-Amerindian origin. Genotyping of 118 SNPs was performed in 313 RA patients/487 healthy control subjects by mid-density arrays of polymerase chain reaction (PCR). Some of the identified associations were validated in an additional cohort (250 cases/290 controls). One marker, the SNP rs2451258, located upstream of T Cell Activation RhoGTPase Activating Protein (TAGAP) gene, showed significant association with RA (p = 5 × 10-3), whereas 18 markers exhibited suggestive associations (p < 0.05). Haplotype testing showed association of some groups of adjacent SNPs around the signal transducer and activator of transcription 4 (STAT4) gene (p = 9.82 × 10-3 to 2.04 × 10-3) with RA. Our major finding was little replication of previously reported genetic associations with RA. These results suggest that performing GWAS and admixture mapping in LA populations has the potential to reveal novel loci associated with RA. This in turn might help to gain insight into the 'pathogenomics' of this disease and to explore trans-population differences for RA in general.

B subset cells in patients with chronic granulomatous disease in a Mexican population.

INTRODUCTION: Chronic granulomatous disease (CGD) is a disorder of phagocyte function, characterized by pyogenic infections and granuloma formation caused by defects in NADPH oxidase complex activity. Although the effect of CGD mainly reflects the phagocytic compartment, B cell responses are also impaired in patients with CGD. MATERIALS AND METHODS: Flow cytometric analysis was performed on peripheral blood samples from 35 CGD patients age-matched with healthy controls (HC). The target cells of our study were the naive (IgD+/CD27-), memory (IgD-/CD27+), and B1a (CD5+) cells. Immunoglobulins (Igs) were also measured. This study was performed in a Latin American cohort. RESULTS: We found significantly higher levels of naive B cells and B1a cells, but lower levels of memory B cells were found in CGD patients compared to HC. There was no significant difference of cell percentages per inheritance type. DISCUSSION: Our findings suggest that the deficiency of NADPH oxidase components can affect the differentiation of naive B cells to memory B cells. Consequently, memory cells will be low, which also influenced the expression of CD27 in memory B cells and as a result, the percentage of naive cells increases. An altered phenotype of B lymphocytes in CGD patients may contribute to the opportunistic infections and autoimmune disorders that are seen in this disease.

Using Convolutional Neural Networks for Classification of Bifurcation Regions in IVOCT Images.

Optical Coherence Tomography (OCT) technology enabled the experts to analyze coronary lesions from high-resolution intravascular images. Studies have shown the relationship between bifurcation regions and a higher occurrence of wall thickening and lesions in these areas. Some level of automation could benefit experts, since examining pullback frames is a laborious and time-consuming task. Although Convolutional Neural Networks (CNN) have shown promising results in classification tasks of medical images, we did not identify the use of CNN's in IVOCT images to classify bifurcation regions in the literature. In this work, we evaluated a CNN architecture in the bifurcation classification task trained with IVOCT images from 9 pullbacks from 9 different patients. We used data augmentation to balance the dataset, due to the low amount of bifurcation-labeled frames. Our classification results are comparable to other works in the literature, presenting better result in AUC (99.70%).

Lumen Segmentation in Optical Coherence Tomography Images using Convolutional Neural Network.

Lumen segmentation in Optical Coherence Tomography (OCT) images is a very important step to analyze points of interest that may help on atherosclerosis diagnostic and treatment. Past studies use many different methods to segment the lumen in IVOCT images, like level set, morphological reconstruction, Markov random fields, and Otsu binarization. Despite Convolutional Neural Networks (CNN) have shown promising results in the image processing area, we did not identify, in the literature, works applying CNN in IVOCT images. In this paper, we present the lumen segmentation using CNN. We evaluated three different CNN architectures. The CNNs were evaluated using three versions from the image dataset, differing from each other by image size (768x768 pixels and 192x192 pixels), and by coordinate system representation (Cartesian and polar). The best results, Accuracy, Dice index and Jaccard index of over 99%, 98% and 97%, respectively, were obtained with the smallest size images represented by polar coordinate system.

Head trauma in the haemophilic child and management in a paediatric emergency department: Descriptive study.

INTRODUCTION: Haemophilia is one of the most common inherited bleeding disorders in the Emergency Department (ED). The most dangerous site of bleeding is the central nervous system. AIMS: To describe the characteristics of haemophiliacs arrived to our ED following a head trauma and to analyse the incidence of intracranial haemorrhage (ICH). MATERIALS AND METHODS: Retrospective, analytical, observational study, conducted in a Paediatric ED. We included haemophilic patients aged from birth to 16 years who consulted after a head trauma over a 6-year period. Data collected included age, type of haemophilia and head trauma, symptoms, prophylaxis status, CT imaging, treatment and number of visits to the ED. RESULTS: About 46 males and 85 episodes were analysed. The median age was 2.38 years. Severe haemophilia A was the most frequent type of disease (50%). All head injuries were mild, and the most frequent mechanism was a collision with an object (38.8%). In 62 episodes (72.9%) the patients were asymptomatic. The rest 23 events had symptomatology, being the most common headache (26%), emesis (21.7%) and drowsiness (17.4%). Head CT was obtained in 31 episodes, founding altered results in 10 (6 of them corresponding to ICH). All the patients with ICH had symptomatology. About 37 episodes required admission. CONCLUSION: Intracranial haemorrhage is one of the most dangerous events in haemophiliacs and it may occur after a head trauma. Our study suggests that, in case of head trauma, CT must be obtained in symptomatic patients and in those with additional risk factors. Asymptomatic patients must have prolonged observation.

Directional analysis of cardiac motion field from gated fluorodeoxyglucose PET images using the Discrete Helmholtz Hodge Decomposition.

OBJECTIVES: Extract directional information related to left ventricular (LV) rotation and torsion from a 4D PET motion field using the Discrete Helmholtz Hodge Decomposition (DHHD). MATERIALS AND METHODS: Synthetic motion fields were created using superposition of rotational and radial field components and cardiac fields produced using optical flow from a control and patient image. These were decomposed into curl-free (CF) and divergence-free (DF) components using the DHHD. RESULTS: Synthetic radial components were present in the CF field and synthetic rotational components in the DF field, with each retaining its center position, direction of motion and diameter after decomposition. Direction of rotation at apex and base for the control field were in opposite directions during systole, reversing during diastole. The patient DF field had little overall rotation with several small rotators. CONCLUSIONS: The decomposition of the LV motion field into directional components could assist quantification of LV torsion, but further processing stages seem necessary.

Higgs physics at the CLIC electron-positron linear collider.

The Compact Linear Collider (CLIC) is an option for a future [Formula: see text] collider operating at centre-of-mass energies up to [Formula: see text], providing sensitivity to a wide range of new physics phenomena and precision physics measurements at the energy frontier. This paper is the first comprehensive presentation of the Higgs physics reach of CLIC operating at three energy stages: [Formula: see text], 1.4 and [Formula: see text]. The initial stage of operation allows the study of Higgs boson production in Higgsstrahlung ([Formula: see text]) and [Formula: see text]-fusion ([Formula: see text]), resulting in precise measurements of the production cross sections, the Higgs total decay width [Formula: see text], and model-independent determinations of the Higgs couplings. Operation at [Formula: see text] provides high-statistics samples of Higgs bosons produced through [Formula: see text]-fusion, enabling tight constraints on the Higgs boson couplings. Studies of the rarer processes [Formula: see text] and [Formula: see text] allow measurements of the top Yukawa coupling and the Higgs boson self-coupling. This paper presents detailed studies of the precision achievable with Higgs measurements at CLIC and describes the interpretation of these measurements in a global fit.

[The duodenal microbiota composition in children with active coeliac disease is influenced by the degree of enteropathy]. / La composición de la microbiota duodenal en niños con enfermedad celíaca activa está influenciada por el grado de enteropatía.

OBJECTIVES: To establish whether the duodenal mucosa microbiota of children with active coeliac disease (CD) and healthy controls (HC) differ in composition and biodiversity. MATERIAL AND METHODS: Samples of duodenal biopsies in 11 CD patients were obtained at diagnosis, and in 6 HC who were investigated for functional intestinal disorders of non-CD origin. Total duodenal microbiota and the belonging to the genus Lactobacillus using PCR-denaturing gradient gel electrophoresis (DGGE) were analysed. The banding patterns obtained in the resulting gels were analysed to determine the differences between the microbiota of CD patients and HC (FPQuest 4.5) while environmental indexes (richness, diversity and habitability) were calculated with the Past version 2.17 program. RESULTS: The intestinal microbiota of patients with Marsh 3c lesion showed similarity of 98% and differs from other CD patients with other type of histologic lesion as Marsh3a, Marsh3b and Marsh2. The main differences were obtained in ecological indexes belonging to the genus Lactobacillus, with significant richness, diversity and habitability reduction in CD patients. In CD bands were categorized primarily with Streptococcus, Bacteroides and E.coli species. In HC the predominant bands were Bifidobacterium, Lactobacillus and Acinetobacter, though the Streptococcus and Bacteroides were lower. CONCLUSIONS: The celiac patients with major histological affectation presented a similar microbiota duodenal. The ecological indexes applied to the genus Lactobacillus were significantly reduced in CD.

Los riesgos del empleo de reptiles como animales de compañía / Risk of use of reptiles as pets

En los últimos años se ha incrementado el número de familias que tienen animales exóticos como mascotas, que en ocasiones actúan como reservorio de subespecies poco habituales de patógenos gastrointestinales. Se presenta el caso de un niño con gastroenteritis aguda por Salmonella arizonae, una subespecie de la Salmonella enterica cuyo reservorio es principalmente los reptiles (AU)

In the last years the number of families who have exotic animals as pets has been increased, sometimes acting as a reservoir of rare subspecies of gastrointestinal pathogens. We present the case of a child with acute gastroenteritis caused by S. arizonae (Salmonella enterica subspecies), whose main reservoir are reptiles (AU)

Intoxicación por antitusivos: a propósito de un caso / Antitussives’ poisoning: a case report

Los medicamentos antitusivos son de uso habitual dentro del ámbito pediátrico, a pesar de que su eficacia no está claramente demostrada. La mayoría de las ingestas accidentales no suelen asociarse a complicaciones severas; sin embargo, en ocasiones pueden presentarse efectos secundarios potencialmente graves. Se presenta un caso de intoxicación con un producto antitusivo (AU)

Antitussive drugs are commonly used in Pediatrics, although their effectiveness is not clearly demonstrated. Most of the accidental intakes do not tend to be associated with severe complications; however sometimes potentially serious side effects may occur. A case of poisoning is presented with a cough suppressant product (AU)

Enfoque y manejo de la tartamudez / Approach and management of stuttering

La tartamudez es el trastorno del habla más frecuente en la edad pediátrica. Su etiología es multifactorial. El diagnóstico se basa en una correcta anamnesis y exploración clínica. Se describe un caso y se comentan los puntos clave de su manejo (AU)

Stuttering is the most common speech disorder in childhood. It has a multifactorial etiology. The diagnosis is based on clinical history and physical examination. A case is described and the key points of its management are discussed (AU)

[Inherited metabolic disorders in pediatric emergency services]. / Enfermedades metabólicas congénitas en un servicio de urgencias pediátricas.

INTRODUCTION: Advances in the early diagnosis and treatment have led to improved survival, and a better quality of life for patients with inherited metabolic disorders (IMD). They can go to the Pediatric Emergency Services (PES) for reasons unrelated to their disease. The purpose of this study was to review the characteristics of visitors to the PES of these patients in a tertiary hospital. MATERIAL AND METHODS: A retrospective observational study was conducted on all visits from patients with IMD to the PES of Hospital Infantil La Paz over the years 2011 and 2012. IMD type, complaint, duration of symptoms, need for hospitalization, and presence of metabolic decompensation was recorded. RESULTS: A total of 107 visits were analyzed, with the most frequent reason being for consultation of respiratory processes (30.8%). When the consultation was for vomiting, patients with protein-related disorders were those who delayed less in going to PES. One third of visitors were admitted, half of them due to metabolic decompensation of the underlying pathology. CONCLUSIONS: Patients with IMD came to PES for many different reasons, which in some cases were the cause or consequence of an acute metabolic decompensation that led to hospitalization. Being diseases with low prevalence, it would be useful to have diagnostic and therapeutic protocols in order to provide optimal care.

Favourable impact of regular swimming in young people with haemophilia: experience derived from 'Desafio del Caribe' project.

Swimming is beneficial for persons with haemophilia (PWH) providing good maintenance of the cardiovascular and musculoskeletal system and improving many psychological characteristics. In the Desafío del Caribe Project, young PWH from Venezuela and Mexico took part in an open water competition in the Gulf of Mexico under a multidisciplinary team supervision. Eight severe haemophilia A, two moderate haemophilia A, one severe haemophilia B and two moderate haemophilia B subjects were included. Haematological, musculoskeletal and psychological evaluations were carried out before and during training for the competition. Training program included physical exercise routines and swimming practices that alternated between pools and open water. Swimmers had coverage with factor concentrates before pool and open water trainings. In physiatric evaluations, the Hemophilia Joint Health Score (HJHS) was used. The objective of the psychology area was to analyse self-esteem, precompetition anxiety, coping mechanisms and relaxation levels. The need of factor prophylaxis before intense trainings was confirmed. In the musculoskeletal system a decrease of elbow pain as well as an increase of muscle strength in the ankles were observed. In the psychological area significant differences between the first and second test in self-esteem levels, cognitive anxiety and group cohesion were found. PWH must be provided with orientation and encouragement to practice swimming regularly. High competition exercise must be supervised by a multidisciplinary team which must evaluate the pros and cons of the activity to make relevant recommendations.

Temporal changes in histomorphology and gene expression in goat testes during postnatal development.

Testicular cell proliferation and differentiation is critical for development of normal testicular function and male reproductive maturity. The objective of the current study was to evaluate histoarchitecture and expression of genes marking specific cells and important functions as well as testosterone production of the developing goat testes. Testes were harvested from Alpine bucks at 0, 2, 4, 6, and 8 mo of age (n = 5/age group). Paired testes weight increased from 2 to 4 (P < 0.001) and 4 to 6 mo (P < 0.01). The greatest increases in seminiferous tubule and lumen diameters and height of the seminiferous epithelium occurred between 2 and 4 mo (P < 0.001). Genes expressed in haploid germ cells (Protamine1 [PRM1], Outer Dense Fiber protein 2 [ODF2], and Stimulated by Retinoic Acid gene 8 [STRA8]) increased dramatically at the same time (P < 0.001). Expression of other genes decreased (P < 0.05) during testicular maturation. These genes included P450 side chain cleavage (CYP11A1), Sex determining region Y-box 9 (SOX9), Insulin-like Growth Factor 1 Receptor (IGF1R), and Heat Shock Protein A8 (HSPA8). The Glutathione S-Transferase A3 (GSTA3) gene, whose product was recently recognized as a primary enzyme involved in isomerization of androstenedione in man and livestock species including goats, sheep, cattle, pigs, and horses, uniquely peaked in expression at 2 mo (P < 0.05). Follicle-Stimulating Hormone Receptor (FSHR) mRNA abundance tended to steadily decrease with age (P = 0.1), while Luteinizing Hormone Receptor (LHCGR) mRNA abundance in testes was not significantly different across the ages. Testosterone content per gram of testicular tissue varied among individuals. However, testosterone content per testis tended to increase at 6 mo (P = 0.06). In conclusion, major changes in cellular structure and gene expression in goat testes were observed at 4 mo of age, when spermatogenesis was initiated. Male goats mature rapidly and represent a good model species for the study of agents that enhance or impair development of testicular functions.

Mobile health in emerging countries: a survey of research initiatives in Brazil.

OBJECTIVE: To conduct a comprehensive survey of mobile health (mHealth) research initiatives in Brazil, discussing current challenges, gaps, opportunities and tendencies. METHODS: Systematic review of publicly available electronic documents related to mHealth, including scientific publications, technical reports and descriptions of commercial products. Specifically, 42 projects are analyzed and classified according to their goals. This analysis considers aspects such as security features provided (if any), the health condition that are focus of attention, the main providers involved in the projects development and deployment, types of devices used, target users, where the projects are tested and/or deployed, among others. RESULTS: The study shows a large number (86%) of mHealth solutions focused on the following categories: health surveys, surveillance, patient records and monitoring. Meanwhile, treatment compliance, awareness raising and decision support systems are less explored. The main providers of solutions are the universities (56%) and health units (32%), with considerable cooperation between such entities. Most applications have physicians (55%) and Community Health Agents (CHAs) (33%) as targeted users, the latter being important elements in nation-wide governmental health programs. Projects focused on health managers, however, are a minority (5%). The majority of projects do not focus on specific diseases but rather general health (57%), although solutions for hearth conditions are reasonably numerous (21%). Finally, the lack of security mechanisms in the majority of the surveyed solutions (52%) may hinder their deployment in the field due to the lack of compliance with general regulations for medical data handling. CONCLUSION: There are currently many mHealth initiatives in Brazil, but some areas have not been much explored, such as solutions for treatment compliance and awareness raising, as well as decision support systems. Another research trend worth exploring refers to creating interoperable security mechanisms, especially for widely explored mHealth categories such as health surveys, patient records and monitoring. Challenges for the expansion of mHealth solutions, both in number and coverage, include the further involvement of health managers in the deployment of such solutions and in coordinating efforts among health and research institutions interested in the mHealth trend, possibly exploring the widespread presence of CHAs around the country as users of such technology.

Etapas del proceso de construcción de la inteligencia sensoriomotriz en bebés argentinos / Construction stages of the sensorimotor intelligence

El objetivo del artículo es presentar los resultados correspondientes a una investigación que se enmarca en un proyecto UBACyT 2008-2010, cuyo título es “Evaluación Nacional de la Inteligencia Sensoriomotriz a bebés de 6 a 30 meses”. El objetivo principal de dicha investigación es conocer las etapas del proceso de construcción de la inteligencia práctica en bebés argentinos en las distintas provincias de la Argentina y la elaboración de nuevos baremos a nivel nacional para la Escala Argentina de Inteligencia Sensoriomotriz (EAIS). La muestra se encuentra compuesta por 800 niños de 6 a 30 meses de edad de las provincias de Buenos Aires y CABA, Córdoba, Entre Ríos, Santa Fe, Salta, Chaco, Misiones, Mendoza, Santa Cruz y Río Negro. No se observaron diferencias significativas entre las provincias argentinas en los niveles de desarrollo cognitivo en los bebés. No ha sido necesaria la elaboración de tablas diferenciales de baremos por región. Se presentan las tablas de baremos para la EAIS para la evaluación del desarrollo cognitivo en bebés de 6 a 30 meses de edad a nivel nacional.