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.

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.

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.

[Home CPAP Remote Monitoring as a System to Control Adaptation and Titration in Obstructive Sleep Apnoea and its Impact on the Management of this Pathology (T-CPAP Project)]. / Impacto de la telemonitorización como sistema para una adecuada titulación y adaptación de la CPAP domiciliaria en la apnea obstructiva del sueño (proyecto T-CPAP).

Introduction: Continuous Positive Airway Pressure (CPAP) constitutes the most effective treatment for Obstructive Sleep Apnea (OSA). Automatic titration systems (ATS) are predominantly used to achieve adaptation to the equipment. Home CPAP devices allow telemonitoring (TM) of the same parameters as those provided by ATS but with access to continuous usage data. Under this premise, we conducted a study on the potential validity of TM for home CPAP devices as a titration system, its direct impact on proper adaptation (AD) to the equipment, and secondarily on the healthcare resources employed to achieve it. Material and methods: An observational study involving 318 patients with OSA who were titrated using TM to achieve AD to CPAP. Patients with OSA were consecutively recruited and evaluated at 1, 3, and 6 months after initiating treatment. Results were compared with a historical group of 307 patients with OSA who achieved AD to CPAP using ATS. Additionally, we assessed the impact on required healthcare resources. Results: Patients with OSA who initiated CPAP treatment with TM over the first six months showed a similar AD rate compared to the historical group titrated using ATS, with lower resource usage in the TM group. Conclusion: Data provided by TM of home CPAP devices allow for titration and achieving similar AD as with ATS in non-complex patients.

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.

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%).

Treatment of animal carcasses in poultry farms using sealed ditches.

Several hen carcass elimination experiments were conducted by isolating corpses in a sealed ditch and adding different doses of lime. The aim was to evaluate the viability of this method as an alternative to other elimination techniques, as required in the European regulation CE 1774/2002 [Reglamento CE 1774/2002, de 3 de octubre por el que se establecen las normas sanitarias aplicables a los subproductos animales no destinados a consumo humano]. The experiments were carried out at a natural scale, in a 200m3 ditch located in a livestock enterprise, using a proportion of 200g of lime/kg of carcass. We observed a high degradation of carcasses after six months, the method being also safe from a microbiological point of view. The material extracted from the ditch had a high calcium content (330.7gkg(-1)), which makes it an ideal product for soil lacking this element, or as an acidity corrector in acid soils due to its basic (pH 8.48) nature. It also contains a significant amount of mineral nutrients (17.0gkg(-1) N, 2.4gkg(-1) P and 4.9gkg(-1) K) and organic matter (101.5gkg(-1)). We also analysed the material extracted from the ditch prior to its renovation for the experiments and followed the processes taking place in the ditch during the first six months, when lime doses of 100, 200 and 300 gkg(-1) of treated carcass were applied. Simultaneously, we carried out laboratory experiments in cylindrical 25L deposits to evaluate the gas release of the three (100, 200 and 300g of lime/kg carcass) doses of lime used. After the tenth week, we observed CO2 concentrations ranging from 5% for the lower lime doses to very low levels for the 300g lime/kg carcass dose. As regards methane, in the three series of experiments, the release was highest during the first weeks, began to decrease in the eighth week and reached its lower value during the fourteenth week. Emissions of NO2 were not observed, and the levels of NH3 and SH2 were usually so high that they exceeded the detection level of the apparatus used to register them.

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.

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.

Multiscale representation for automatic identification of structures in medical images.

The identification of structures is a key step in several applications of medical imaging. In this work we propose a method for the identification of structures using a multiscale approach with inclusion of a priori information about the searched objects. After describing the image structures in the multiscale representation, a matching step determines which structure most likely corresponds to the target. Patterns are generated by previous application of the method to a set of images. We present a prototype for identifying structures in 2D images. A set of experiments was carried out to evaluate the prototype leading to encouraging results.

[Anterior approach otoplasty for treatment of prominent ears in children. A minimally invasive technique]. / Otoplastia por vía anterior para el tratamiento de las orejas prominentes. Una técnica mínimamente invasiva.

INTRODUCTION: In adult patients, it has been reported that prominent ears can be treated by mattress sutures placed through the anterior aspect of the ear, with a minimally invasive technique. In order to verify the utility of this method in children, we used this technique in our patients. MATERIAL AND METHODS: Twenty-two prominent ears were treated in 12 patients between 8 and 11 years of ages. All were operated under general anesthesia. The anterior surface of the auricular cartilage is scored with a rasp. The antihelix shape is obtained, and mattress sutures are placed through the anterior surface of the ear. RESULTS: A good aesthetic result was obtained in all the cases. Superficial skin necrosis happened in three. Partial loss of correction in the superior pole was noted in four ears. In 6, some knots were visible through the skin. CONCLUSIONS: This repair is a simple technique for the treatment of the prominent ears in children, of good aesthetic results, that it avoids the necessity of dorsal skin resection and produces folds of antihelix more naturally curved. In children, to avoid the exteriorization of the suture material, the knots must be placed in the posterior surface of de auricular cartilage.

[Nonsurgical correction of congenital auricular deformities a new method of neonatal molding and splinting]. / Tratamiento no quirúrgico de las deformaciones auriculares. Una nueva técnica de modelado y ferulización auricular en el período neonatal.

INTRODUCTION: The utility of the nonsurgical correction of congenital auricular deformities by ear molding and splinting has been previously established. Occasionally, its application cannot be easy, and the later collaboration of the parents is necessary. We report a new method of splinting that simplifies the procedure. DESIGN: prospective, case series. PATIENTS AND METHODS: Twenty ears in 15 patients between 7 and 60 days of age (average 22 days) were treated. They were 12 prominent ears, 4 Stahl's ears, 2 lop ears, 1 Crinkled ear, and 1 case of increase of antihelix folder. Cotton impregnated with 2-Octyl-Cyanoacrylate is placed as splint for 6 weeks. RESULTS: The bilateral application lasted less than 5 minutes, end there were no spills to the external auditory canal. The splint was given off to the 2 weeks, and a second procedure was necessary in all the cases. There were no dermatitis or skin ulcers. The treatment was successful in 11 cases, partial improvement in 3, poor correction in 4, and recurrence in 2. CONCLUSIONS: The splint therapy is an easy nonsurgical method for the treatment of congenital auricular deformities that applied during the first weeks of life provides good aesthetic results in more than 50% of the patients.

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.

[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.

Increase with age of serum lipid peroxides: implications for the prevention of atherosclerosis.

There is considerable support for the concept that oxygen free radicals and related lipid peroxides play a key role in the pathogenesis of normal senescence and of age-related chronic degenerative diseases, including atherosclerosis. This has led to a great deal of interest regarding peroxidized LDL, which seems to be more atherogenic than LDL. In contrast, the relationship of total serum or plasma lipid peroxides (which also have a marked atherogenic action) with both aging and atherogenesis are not well understood. In view of the above, we have determined the level of serum lipid peroxide (expressed as thiobarbituric acid reactive substances) in a sample of 100 healthy men and women ranging in age from 20 to 70 years. Our data show that there is an age related increase in the concentration of lipid peroxide, with men showing higher or about equal values than women until about 60 years, after which age women show the higher values. Our data also suggest that in certain men and women, aging is linked to a decline in the competence of the oxyradical-detoxifying mechanisms, which results in increased serum lipid peroxidation. Further research is needed to find out if lowering the serum peroxide levels of aging subjects by diet supplementation with antioxidants will decrease that risk. An adequate intake of antioxidants seems especially indicated in post-menopausal women because of their apparent greater sensitivity to age related oxygen stress.

Management of and counseling for psychotropic drug-induced sexual dysfunction.

Clinicians are increasingly faced with the need to identify, treat, and counsel patients regarding psychotropic drug-induced sexual dysfunction. Antipsychotic and antidepressant drugs have both rational mechanisms to explain their effects on sexual function and established literature documenting these effects. The agents have potential for causing decreased libido, delayed ejaculation, and anorgasmia. Management and counseling can be highly effective for patients taking these agents.

Catastrophic antiphospholipid syndrome associated with crescentic glomerulonephritis: a clinicopathologic case.

The association of renal failure with catastrophic antiphospholipid syndrome has been reported in the context of microvascular occlusions and/or malignant hypertension. We describe a 36-year-old woman who died of multiorgan failure with the laboratory, clinical and histopathological characteristics of catastrophic antiphospholipid syndrome associated with a crescentic glomerulonephritis and renal failure.

Chronic recurrent multifocal osteomyelitis: report of a case with epiphyseal and metaphyseal involvement.

Chronic recurrent osteomyelitis is a recognized clinicopathological entity with typical radiographic findings in the metaphyses of the long bones. Epiphyseal lesions usually are small and may easily be overlooked. Bone scintigraphy is helpful in identifying multiple lesions whether symptomatic or not. The diagnosis is one of exclusion without pathognomonic findings. Recognition of the condition is important to avoid treatment with antibiotics and repeated operations.

A voxel-based investigation of regional cerebral blood flow abnormalities in obsessive-compulsive disorder using single photon emission computed tomography (SPECT).

Several functional imaging studies have reported abnormalities of the orbitofrontal and anterior cingulate cortices, striatum and thalamus in obsessive-compulsive disorder (OCD). These studies have often been limited by small patient samples and image analysis methods that rely on region-of-interest (ROI) approaches. We have assessed resting regional cerebral blood flow with 99mTc-ECD SPECT in 26 unmedicated OCD patients and 22 healthy control subjects using the voxel-based Statistical Parametric Mapping method for data analysis. We found a significantly reduced ECD uptake in OCD patients relative to the control subjects in the right lateral orbitofrontal cortex, and in the left dorsal anterior cingulate cortex (P<0.001 two-tailed, uncorrected for multiple comparisons). There were significant positive correlations in the OCD group between the ECD uptake in the left lateral orbitofrontal cortex and ratings for obsessive-compulsive symptoms (OCS), and between the ECD uptake in the right medial orbitofrontal cortex and the ratings for both OCS and depressive symptoms. There were also unpredicted significant ECD uptake increases in the cerebellum in OCD patients, as well as a negative correlation between posterior cingulate ECD uptake and OCS severity (P<0.05, corrected for multiple testing). These results implicate specific subregions of the orbitofrontal and anterior cingulate cortices in the pathophysiology of OCD, as well as suggesting the involvement of other areas not usually included in ROI-based imaging studies. With the incorporation of voxel-based methods and the use of large patient samples, rCBF-SPECT studies may continue to provide valuable information about the functional anatomy of OCD.