Scale-Fractal Detrended Fluctuation Analysis for Fault Diagnosis of a Centrifugal Pump and a Reciprocating Compressor.

Reciprocating compressors and centrifugal pumps are rotating machines used in industry, where fault detection is crucial for avoiding unnecessary and costly downtime. A novel method for fault classification in reciprocating compressors and multi-stage centrifugal pumps is proposed. In the feature extraction stage, raw vibration signals are processed using multi-fractal detrended fluctuation analysis (MFDFA) to extract features indicative of different types of faults. Such MFDFA features enable the training of machine learning models for classifying faults. Several classical machine learning models and a deep learning model corresponding to the convolutional neural network (CNN) are compared with respect to their classification accuracy. The cross-validation results show that all models are highly accurate for classifying the 13 types of faults in the centrifugal pump, the 17 valve faults, and the 13 multi-faults in the reciprocating compressor. The random forest subspace discriminant (RFSD) and the CNN model achieved the best results using MFDFA features calculated with quadratic approximations. The proposed method is a promising approach for fault classification in reciprocating compressors and multi-stage centrifugal pumps.

Observability Analysis and Observer Design for a Nonlinear Three-Tank System: Theory and Experiments.

This paper addresses the observability analysis and observer design for a nonlinear interacting three-tank system. The plant configuration is first described using the process and instrumentation diagram (P&ID) and a state-space realization is derived; some insights about the behavior of the nonlinear system, considering equilibrium points and the phase portrait are provided. Then, observability in the Hermann-Krener sense is analyzed. A high-gain observer (HGO) is then designed, using the equivalence of the original state-space realization with its observability canonical form, in order to guarantee convergence of the state estimation. The performance was validated through simulation and experiments in a multipurpose plant equipped with real sensors; the HGO response was compared to a Luenberger observer (for a linear approximation of the plant) and the Extended Kalman Filter (for which convergence is not guaranteed), considering nonlinearities, interaction, disturbances and noise. Theoretical and experimental results show that the HGO can provide robust estimation and disturbance rejection, despite the sensitivity of HGOs to noisy variables in processes such as level of liquids.

Extenders modify the seminal plasma ability to minimize freeze-thaw damage on ram sperm.

Seminal plasma (SP) proteins interact with sperm plasma membrane (PM) modulating its functionality. It has been shown that SP proteins can reverse the damage caused by freeze-thaw; however in these studies, SP has been added to washed sperm (i.e., cells depleted from homologous SP and extender). The aim of the current study was to assess whether the egg yolk-based extender (EY) modifies SP ability to ameliorate sperm parameters in frozen-thawed ram spermatozoa. Ejaculates were diluted in EY or soybean lecithin-based extender (SL) and evaluated before and after freezing to measure the cell damage according to the extender. Even when all classical parameters decreased after freezing, as expected (p < .05), there was no effect of the extender. SP treatment was applied after freeze-thaw. Sperm were incubated with SP (20% v/v) in the presence of either EY or SL, and sperm parameters were assessed after thawing compared with the same treatments after Percoll sperm selection (washed). Treatments with 20% SP improved sperm total and progressive motility compared with controls regardless of washing and extender (p < .05); however, washed sperm showed higher percentage of total sperm motility compared with those unwashed (p < .05). Moreover, treatment with 20% SP showed significantly higher percentages of PM integrity, sperm with intact acrosomes, integrity of chromatin and non-capacitated sperm in samples diluted with EY when washed before treatment compared with the other conditions (p < .05). It was concluded that the presence of the extenders and particularly egg yolk alters the SP capacity to reduce the cryodamage.

The p.R47H Variant of TREM2 Gene is Associated With Late-onset Alzheimer Disease in Colombian Population.

OBJECTIVE: We evaluated the association of several single-nucleotide polymorphisms in the triggering receptor expressed on myeloid cells 2 (TREM2) gene in a Colombian sample of late-onset Alzheimer disease (LOAD). METHODS: The p.Q33* (rs104894002), p.R47H (rs75932628), p.R62H (rs143332484), and p.D87N (rs142232675) variants of TREM2 gene were directly genotyped using KASPar technology in 358 cases and 329 healthy controls. Sanger sequencing was used to validate >10% of KASPar's results. The Fisher exact test was used to compare the distribution of allelic and genotype frequency between cases and controls, and the Bonferroni correction was set at P<0.05. RESULTS: The minor allele frequency of rs75932628-T was 0.009 in cases and was not found in any healthy controls which suggests a significant association between rs75932628-T and LOAD risk in our sample (P=0.010). The rs143332484-T variant did not exhibit a significant association (P=0.160), whereas rs104894002 and rs142232675 were not found. CONCLUSIONS: Our findings suggest that the rs75932628-T variant of TREM2 is an important risk factor for LOAD in the Colombian population.

Association between atrial fibrillatory rate and heart rate variability in patients with atrial fibrillation and congestive heart failure.

BACKGROUND: Even if atrial fibrillatory rate (AFR) has been related to clinical outcome in patients with atrial fibrillation (AF), its relation with ventricular response has not been deeply studied. The aim of this study was to investigate the relation between AFR and RR series variability in patients with AF. METHODS: Twenty-minute electrocardiograms in orthogonal leads were processed to extract AFR, using spatiotemporal QRST cancellation and time frequency analysis, and RR series in 127 patients (age 69 ± 11 years) with congestive heart failure (NYHA II-III) enrolled in the MUSIC study (MUerte Subita en Insufficiencia Cardiaca). Heart rate variability and irregularity were assessed by time domain parameters and entropy-based indices, respectively and their correlation with AFR investigated. RESULTS: Variability measures seem not to be related to AFR, while irregularity measures do. A significant correlation between AFR and variability parameters of heart rate variability during AF was found only in patients not treated with antiarrhythmics drugs (correlation = 0.56 P < 0.05 for pNN50), while this correlation was lost in patients taking rate- or rhythm-control drugs. A significant positive correlation between AFR and indices of RR irregularity was found, showing that a higher AFR is related to a less organized RR series (correlation = 0.33 P < 0.05 for regularity index for all patients, correlation increased in subgroups of patients treated with the same drug). CONCLUSIONS: These results suggest that a higher AFR is associated with a higher degree of irregularity of ventricular response that is observed regardless of the use of rate-controlling drugs.

Design of a Bioinspired Underwater Glider for Oceanographic Research.

The Blue Economy, which is based on the sustainable use of the ocean, is demanding better understanding of marine ecosystems, which provide assets, goods, and services. Such understanding requires the use of modern exploration technologies, including unmanned underwater vehicles, in order to acquire quality information for decision-making processes. This paper addresses the design process for an underwater glider, to be used in oceanographic research, that was inspired by leatherback sea turtles (Dermochelys coriacea), which are known to have a superior diving ability and enhanced hydrodynamic performance. The design process combines elements from Systems Engineering and bioinspired design approaches. The conceptual and preliminary design stages are first described, and they allowed mapping the user's requirements into engineering characteristics, using quality function deployment to generate the functional architecture, which later facilitated the integration of the components and subsystems. Then, we emphasize the shell's bioinspired hydrodynamic design and provide the design solution for the desired vehicle's specifications. The bioinspired shell yielded a lift coefficient increase due to the effect of ridges and a decrease in the drag coefficient at low angles of attack. This led to a greater lift-to-drag ratio, a desirable condition for underwater gliders, since we obtained a greater lift while producing less drag than the shape without longitudinal ridges.

A new approach to obtain kinetic parameters of corn cob pyrolysis catalyzed with CaO and CaCO3.

A new approach is proposed to obtain the kinetic parameters of biomass pyrolysis mixed with calcium catalyst. This approach involves the optimization of least squares (LS) with the Coats-Redfern integral method to avoid mathematical biases that may appear when applying the linear regression approach. The method was applied to the TGA data of pyrolysis of corn cob and corn cob mixed with 20 or 40 % by weight of CaO or CaCO3 under N2 atmosphere at temperatures between 25 and 700 °C. For raw cob, r2 reaches 0.997. For corn cob mixed with 20 % by weight of CaO or CaCO3, r2 reached 0.996-0.998, and for 40 % by weight, r2 reached 0.836-0.957. Applying this method, the activation energy (EA) value of the raw cob pyrolysis is 58.35 kJ mol-1, while the addition of CaO or CaCO3 increases the EA to 69.33 and 66.07 kJ mol-1, respectively. The method is simple to use and allows reliable values of kinetic parameters.

Psychopathology in paediatric systemic lupus erythematosus. / Psicopatología en lupus eritematoso sistémico pediátrico.

INTRODUCTION: Although systemic lupus erythematosus (SLE) is more common in adults, when it is diagnosed before the age of 16, it has a worse prognosis. Depressive and anxious symptoms are common in this population but few studies have examined anxiety or its relationship with manifestations of the disease or type of treatment received. OBJECTIVE: To determine the frequency of anxious and depressive symptoms in children and adolescents with SLE, as well as their relationship with disease activity and the immunosuppressive treatment used. METHODS: A cross-sectional study in which paediatric patients with SLE from 9 to 17 years of age from a paediatric referral centre in the city of Bogota were included. Each patient was interviewed and immunosuppressive treatment, time to diagnosis and disease activity were recorded. The frequency of depressive and anxious symptoms and quality of life were measured with validated questionnaires. The relationship between anxious or depressive symptoms and disease activity and immunosuppressive treatment was sought. RESULTS: 40 patients with a mean age of 14±2 years were interviewed. 52% of cases had active disease. 60% presented scores indicating anxiety and one patient a score suggesting depression. 37% reported suicidal thoughts following the diagnosis of SLE. No relationship was found between disease activity and psychiatric manifestations. Of the different drugs used, only prednisone was associated with higher anxiety symptom scores (p=0.002). CONCLUSIONS: Anxiety was more prevalent than depression in patients with paediatric SLE. This disorder and the use of corticosteroids were factors of vulnerability to manifest psychopathology. Lupus activity is not related to psychiatric symptoms. SLE has a significant impact on the quality of life of patients.

Desmosterol Incorporation Into Ram Sperm Membrane Before Cryopreservation Improves in vitro and in vivo Fertility.

Pregnancy rates in ewes are markedly low after cervical insemination with frozen-thawed sperm. Sensitivity of ram sperm to freeze-thawing is related to the lipid composition of the membrane, particularly to its low sterol content. Recently, we proved that sterol content of ram sperm can be increased by treatment with methyl-ß-cyclodextrin-sterol complexes and we provided mechanistic based evidence on the differential behavior of cholesterol and desmosterol in the ram sperm membrane. In the present study, we evaluated the role of increasing cholesterol and desmosterol content of ram sperm before cryopreservation, on the extent and distribution of sterols, cryocapacitation status, acrosome integrity, DNA damage associated with apoptosis and fertility competence in vitro and in vivo of post-thawed sperm. After freeze-thawing, similar levels of sterol content were evidenced in control sperm cells and in those pre-incubated with either cholesterol or desmosterol. Still, moderately higher levels of sterols were registered in treated sperm compared to the control, indicating no physiological excess of sterols after thawing or sterol losses that exceed the control. Live cell imaging of fluorescent cholesterol evidenced the presence of sperm sub-populations differentially affected by freeze-thawing. Similar unimodal frequency profiles were observed between sterol-enriched groups, while the control exhibited a sub-population of sperm compatible with low sterol content. Tyrosine phosphorylation was significantly lower when ram sperm incorporated cholesterol compared to the control. No difference in this capacitation parameter was found between the latter and desmosterol-enriched sperm. The percentage of sperm with damaged acrosomes post-thawing, assessed by a fluorescent lectin, was reduced in sperm that incorporated sterols before freezing, irrespective of the sterol class. These results suggest that sterols exert a stabilizing effect on the acrosome. No differences were found in levels of apoptotic DNA fragmentation among experimental groups. As to fertility trials, desmosterol-enriched sperm gave rise to higher rates of in vitro activated oocytes by heterologous fertilization and to significantly lower pregnancy loss in vivo. Our research provides new insights on sterol incorporation into ram sperm prior to cryopreservation, in particular on the additional benefit of incorporating desmosterol as a strategy to improve fertility outcome.

Candidate genes involved in neural plasticity and the risk for attention-deficit hyperactivity disorder: a meta-analysis of 8 common variants.

BACKGROUND: Attention-deficit hyperactivity disorder (ADHD) is an important psychiatric condition in terms of its prevalence and impact on quality of life. It has one of the highest heritabilities found in psychiatric disorders. A number of association studies exploring several candidate genes in different populations around the world have been carried out. The objective of the present study was to carry out a meta-analysis for 8 common variants located in 5 top candidate genes for ADHD (BDNF, HTR1B, SLC6A2, SLC6A4 and SNAP25); these genes are known to be involved in synaptic transmission and plasticity. METHODS: We performed a search for published genetic association studies that analyzed the candidate polymorphisms in different populations, and we applied state-of-the-art meta-analytical procedures to obtain pooled odds ratios (ORs) and to evaluate potential basis of heterogeneity. We included 75 genetic association studies in these meta-analyses. RESULTS: A major part of the previously postulated associations were nonconsistent in the pooled odds ratios. We observed a weak significant association with a single nucleotide polymorphism (SNP) located in the 3' UTR region of the SNAP25 gene (rs3746544, T allele, OR 1.15, 95% confidence interval 1.01-1.31, p = 0.028, I(2) = 0%). In addition to the low coverage of genetic variability given by these variants, phenotypic heterogeneity between samples (ADHD subtypes, comorbidities) and genetic background may explain these differences. LIMITATIONS: Limitations of our study include the retrospective nature of our meta-analysis with the incorporation of study-level data from published articles. CONCLUSION: To our knowledge, the present study is the largest meta-analysis carried out for ADHD genetics; previously proposed cumulative associations with common polymorphisms in SLC6A4 and HTR1B genes were not supported. We identified a weak consistent association with a common SNP in the SNAP25 gene, a molecule that is known to be central for synaptic transmission and plasticity mechanisms.

Cryopreservation and egg yolk extender components modify the interaction between seminal plasma proteins and the sperm surface.

It is known that the addition of seminal plasma (SP) or SP proteins either before freezing or post thawing show contradictory results on sperm quality and fertility due to the interference between SP and the extender. Thus, the aim of this study was to determine whether egg yolk (EY) interferes with SP ability to protect the functionality and fertility of ram sperm during freeze-thawing by modifying the interaction between seminal plasma proteins and the sperm plasma membrane. Ejaculated or epididymal ram sperm collected during the breeding season were incubated with SP in the presence or absence of EY or soybean lecithin-based extenders before cryopreservation. No significant differences were observed after thawing in sperm quality (total and progressive sperm motility, membrane integrity, plasma membrane functionality, percentage of non-capacitated sperm) between the extenders, either in presence or absence of seminal plasma (P ≥ 0.05). The amount of proteins retained by the sperm surface normalized to number of cells was diminished after freeze-thawing compared to their fresh counterparts for all the treatments (P < 0.05), demonstrating that cryopreservation weakens the interaction between external proteins and the sperm surface. The electrophoretic analysis of sperm-bound proteins showed that the retention of several SP peptides onto the sperm surface (based on densitometry estimation) was affected by the presence of the diluents on both ejaculated and epididymal sperm (P < 0.05). Moreover, variation was observed in the protein pattern after thawing compared to the corresponding fresh samples, suggesting that freezing affects surface protein profile. Pregnancy rate after artificial insemination at fixed time was higher (P < 0.05) for samples treated with reconstituted with heterologous SP compared to those supplemented with 20% additional seminal plasma or control samples despite the presence of EY. In conclusion, both freeze-thawing and EY components affected the interaction among seminal plasma proteins and the sperm surface, although these changes were not reflected on different sperm quality parameters under our experimental conditions. In vivo fertility of sperm reconstituted with exogenous SP before freezing was improved even in the presence of EY components considering an optimal ratio SP:sperm.

[Study of genetic variants in the BDNF, COMT, DAT1 and SERT genes in Colombian children with attention deficit disorder]. / Estudio de variantes de los genes BDNF, COMT, DAT1 y SERT en niños colombianos con déficit de atención.

BACKGROUND: Attention deficit and hyperactive disorder (ADHD) is highly prevalent among children in Bogota City. Both genetic and environmental factors play a very important role in the etiology of ADHD. However, to date few studies have addressed the association of genetic variants and ADHD in the Colombian population. OBJECTIVES: To test the genetic association between polymorphisms in the DAT1, HTTLPR, COMT and BDNF genes and ADHD in a sample from Bogota City. METHODS: We genotyped the most common polymorphisms in DAT1, SERT, COMT and BDNF genes associated with ADHD using conventional PCR followed by restriction fragment length polymorphism (RFLP) in 97 trios recruited in a medical center in Bogota. The transmission disequilibrium test (TDT) was used to determine the association between such genetic variants and ADHD. RESULTS: The TDT analysis showed that no individual allele of any variant studied has a preferential transmission. CONCLUSIONS: Our results suggest that the etiology of the ADHD may be complex and involves several genetic factors. Further studies in other candidate polymorphisms in a larger sample size will improve our knowledge of the ADHD in Colombian population.

Psicopatología en lupus eritematoso sistêmico pediátrico / Psychopathology in paediatric systemic lupus erythematosus

RESUMEN Introducción: El lupus eritematoso sistémico (LES) es más frecuente en adultos; sin embargo, cuando se diagnostica antes de los 16 años, es de peor pronóstico. Los síntomas depresivos y ansiosos son frecuentes en esta población, pero pocos estudios examinan la ansiedad o su relación con manifestaciones de la enfermedad o el tipo de tratamiento recibido. Objetivo: Determinar la frecuencia de aparición de síntomas ansiosos y depresivos en niños y adolescentes con LES, así como su relación con la actividad de la enfermedad y el tratamiento inmunosupresor utilizado. Métodos: Estudio de corte trasversal en el que se incluyó a pacientes pediátricos con LES de 9 a 17 años de un centro de referencia pediátrico de la ciudad de Bogotá. Se entrevistó a cada paciente y se exploraron el tratamiento inmunosupresor, el tiempo hasta el diagnóstico y la actividad de la enfermedad. Se midieron con cuestionarios validados la frecuencia de síntomas depresivos y ansiosos y la calidad de vida. Se buscó la relación entre los síntomas ansiosos o depresivos y la actividad de la enfermedad y el tratamiento inmunosupresor. Resultados: Se entrevistó a 40 pacientes, con una media de edad de 14±2 años. El 52% de los casos tenían enfermedad activa. El 60% presentó puntuaciones que indicaban ansiedad y 1 paciente, de depresión. El 37% informó de ideas suicidas tras el diagnóstico de enfermedad lúpica. No se encontró relación entre la actividad de la enfermedad y las manifestaciones psiquiátricas. De los diferentes medicamentos utilizados, solo la prednisona se asoció con puntuaciones más altas de síntomas de ansiedad (p = 0,002). Conclusiones: La ansiedad fue más frecuente que la depresión en los pacientes con LES pediátrico. Este trastorno y la utilización de corticoides fueron factores de vulnerabilidad a sufrir psicopatología. La actividad lúpica no se relaciona con síntomas psiquiátricos. El LES tiene un gran impacto en la calidad de vida de los pacientes.

ABSTRACT Introduction: Although systemic lupus erythematosus (SLE) is more common in adults, when it is diagnosed before the age of 16, it has a worse prognosis. Depressive and anxious symptoms are common in this population but few studies have examined anxiety or its relationship with manifestations of the disease or type of treatment received. Objective: To determine the frequency of anxious and depressive symptoms in children and adolescents with SLE, as well as their relationship with disease activity and the immuno-suppressive treatment used. Methods: A cross-sectional study in which paediatric patients with SLE from 9 to 17 years of age from a paediatric referral centre in the city of Bogota were included. Each patient was interviewed and immunosuppressive treatment, time to diagnosis and disease activity were recorded. The frequency of depressive and anxious symptoms and quality of life were measured with validated questionnaires. The relationship between anxious or depressive symptoms and disease activity and immunosuppressive treatment was sought. Results: 40 patients with a mean age of 14 ± 2 years were interviewed. 52% of cases had active disease. 60% presented scores indicating anxiety and one patient a score suggesting depression. 37% reported suicidal thoughts following the diagnosis of SLE. No relationship was found between disease activity and psychiatric manifestations. Of the different drugs used, only prednisone was associated with higher anxiety symptom scores (p =0.002). Conclusions: Anxiety was more prevalent than depression in patients with paediatric SLE. This disorder and the use of corticosteroids were factors of vulnerability to manifest psychopathology. Lupus activity is not related to psychiatric symptoms. SLE has a significant impact on the quality of life of patients.

[Conversion Disorder in Children and Adolescents]. / Trastorno conversivo en niños y adolescentes.

BACKGROUND: Conversion disorder is diagnosed late, by exclusion and with a high risk of complications. There is a wide experience in adults that is not extrapolated to paediatric patients. According to the literature, the prognosis is better in children, but this changes when other variables such are included, such as comorbidities, late diagnosis and a very convincing social image of the neurological disease. OBJECTIVE: To review the medical literature on the clinical features, diagnosis, comorbidities and treatment of this disorder. METHODS: A literature research was performed on Medline and Pubmed, the terms used were "conversion disorder", pseudoseizures, treatment, clinic, children ("conversion disorder" OR hysteria OR hysterical) (child OR children OR childhood OR pediatric OR paediatric). The most relevant material found is included in this review. CONCLUSIONS: Conversion disorder is often an imprecise diagnosis in high complexity paediatric services. No consensus was found in the literature search on how to treat patients after the initial diagnosis. The evidence that it becomes chronic is not strong enough, just as the evidence is not convincing enough to argue that comorbidity factors are those maintained over time. Clearly, there is no medical experience of the natural history of this disorder in children and adolescents. It is only known is that it is a complex condition, on which there is experience only in the diagnosis and treatment of the acute state, but not so in the long-term care. It is proposed that each patient is studied in detail in order to define the psychiatric diagnosis and its treatment.

[Psychiatric Disorders in Pediatric Patients With Systemic Lupus Erythematosus in a Reference Hospital]. / Trastornos psiquiátricos en pacientes pediátricos con lupus eritematoso sistémico en un hospital de referencia.

OBJECTIVE: To describe the psychiatric manifestations in pediatric patients with systemic erythematous lupus seen in the Fundación Hospital de la Misericordia. METHODS: Observational descriptive study. Medical charts and test results of inpatients and outpatients between 2007 and2013 were reviewed; 39 patients were selected. SPSS 19 was used for statistical analysis. Statistical significance was considered with P=.05. RESULTS: Mean age was 13.7 (2.33), with 78.9% female. The most frequent psychiatric manifestation was anxiety (52.6%), followed by adjustment disorder and depression (36.8% each one), psychosis (10%), conversion disorder (7.9%), and obsessive compulsive disorder (5.3%). The mean SLICC score was 2.76 (2.8), and the mean SLEDAI score was 20.81 (20.82). Antinuclear antibodies were positive in 81.25%. Neuropsychiatric lupus was diagnosed in 65.8% of patients; seizures were observed in 23.7%, headache in 36.8%, stroke in 13.2%, vasculitis, chorea 5.3%, and meningitis 5.3% of patients. The mean time from lupus diagnosis was 20.47 (22.2) months, with the shortest period for adjustment disorder and the longest period in patients with conversion disorder (pseudo-seizures) being 15 months and 31 months, respectively. The highest SLEDAI score was in patients with psychosis (35.5 [16.21] vs 19.08 [13.72]; P=.032), and also the highest disease damage (SLICC, 4.25 [4.03] vs 2.58 [2.67]; P=.27) in comparison with the other manifestations. CONCLUSIONS: The most frequent psychiatric manifestations were anxiety, depression, and adjustment disorder, with a higher frequency than other studies, and with lupus activity principally in patients with psychosis.

[Critical Approach to Somatomorphic Disorders in Children]. / Aproximación crítica a los trastornos somatomorfos en niños.

Somatomorphic disorders have common somatic manifestations without medical explanation, that can affect daily life. There are evaluation difficulties regarding symptom report or observation in children due to their age, parental influence and associated factors. The aim of this work is to acknowledge diagnosis difficulties and clinic tools to approach somatomorphic disorders in children. A systematic search in the information published for the last ten years was carried out. Historical evolution of the concept of somatization has generated difficulties to approach this issue. Some signs could indicate a somatomorphic disorder; however, there are very little evaluating tools for children. Currently, said tools are only based on lists of symptoms without fully answering to all questions. Somatomorphic disorders or somatic symptoms in children are still a gap to be closed.

Estudio de variantes de los genes BDNF, COMT, DAT1 y SERT en niños colombianos con déficit de atención / Study of genetic variants in the BDNF, COMT, DAT1 and SERT genes in Colombian children with attention deficit disorder

Resumen Introducción: El trastorno por déficit de atención e hiperactividad (TDAH) es una perturbación con elevada prevalencia en población infantil de Bogotá. Entre las causas de este trastorno se encuentran factores genéticos y ambientales, pero pocos estudios han tratado de abordar el componente genético en población colombiana. Objetivos: Realizar un estudio de asociación genética entre diferentes polimorfismos y el TDAH en la población de Bogotá. Métodos: Múltiples polimorfismos de los genes DAT1, SERT, COMT y BDNF fueron genotipificados empleando las técnicas de PCR convencional y RFLP en 97 tríos de Bogotá. El test de desequilibrio de trasmisión (TDT) se empleó para determinar la asociación entre las diferentes variantes y el TDAH. Resultados: El análisis de TDT no identificó una transmisión preferencial de alelos de ninguna de las variantes estudiadas. Conclusiones: Nuestros resultados indican que la etiología del TDAH es heterogénea e involucra diversos factores genéticos. Futuros estudios enfocados en otros polimorfismos candidatos en una muestra más grande ayudarán a comprender el TDAH en la población colombiana.

Abstract Background: Attention deficit and hyperactive disorder (ADHD) is highly prevalent among children in Bogota City. Both genetic and environmental factors play a very important role in the etiology of ADHD. However, to date few studies have addressed the association of genetic variants and ADHD in the Colombian population. Objectives: To test the genetic association between polymorphisms in the DAT1, HTTLPR, COMT and BDNF genes and ADHD in a sample from Bogota City. Methods: We genotyped the most common polymorphisms in DAT1, SERT, COMT and BDNF genes associated with ADHD using conventional PCR followed by restriction fragment length polymorphism (RFLP) in 97 trios recruited in a medical center in Bogota. The transmission disequilibrium test (TDT) was used to determine the association between such genetic variants and ADHD. Results: The TDT analysis showed that no individual allele of any variant studied has a preferential transmission. Conclusions: Our results suggest that the etiology of the ADHD maybe complex and involves several genetic factors. Further studies in other candidate polymorphisms in a larger sample size will improve our knowledge of the ADHD in Colombian population.

Trastorno conversivo en niños y adolescentes / Conversion Disorder in Children and Adolescents

Introducción: Hay una amplia experiencia en adultos que no es extrapolable a los pacientes pediátricos. Se describe en la literatura que el pronóstico de los pequeños es mejor, pero esto cambia cuando incluimos variables tales como comorbilidades, diagnóstico tardío y una imagen social de enfermedad neurológica que es muy convincente. El cuidado y la atención de estos pacientes generan muchos interrogantes. Objetivo: Revisar la literatura médica sobre las características clínicas, el diagnóstico, las comorbilidades y el tratamiento de este trastorno. Métodos:Se realizó una búsqueda bibliográfica en MEDLINE y PubMed de las palabras clave "trastorno conversivo", "pseudocrisis", "tratamiento", "clínica", "niños" ("conversion disorder" OR hysteria OR hysterical) (children OR child OR childhood OR pediatric OR paediatric). Se incluyó en esta revisión el material de mayor relevancia encontrado. Conclusiones: El trastorno conversivo es un diagnóstico impreciso, frecuente en los servicios de pediatría de alta complejidad. En la búsqueda no se encontró consenso sobre cómo actuar en la atención de los pacientes luego del diagnóstico inicial. No es contundente que se cronifique ni es convincente la evidencia para afirmar que los factores de comorbilidad son lo que se mantiene en el tiempo. Es claro que la experiencia médica no dispone de una historia natural de este trastorno en niños y adolescentes. En cambio, se sabe que se trata de un padecimiento complejo, sobre el cual se tiene experiencia en el diagnóstico y tratamiento del estado agudo, pero no en su atención a largo plazo. Se propone que se estudie con detalle a cada paciente para definir el diagnóstico psiquiátrico y su tratamiento.

Background: Conversion disorder is diagnosed late, by exclusion and with a high risk of complications. There is a wide experience in adults that is not extrapolated to paediatric patients. According to the literature, the prognosis is better in children, but this changes when other variables such are included, such as comorbidities, late diagnosis and a very convincing social image of the neurological disease. Objective: To review the medical literature on the clinical features, diagnosis, comorbidities and treatment of this disorder. Methods: A literature research was performed on Medline and Pubmed, the terms used were "conversion disorder", pseudoseizures, treatment, clinic, children ("conversion disorder" OR hysteria OR hysterical) (child OR children OR childhood OR pediatric OR paediatric). The most relevant material found is included in this review. Conclusions: Conversion disorder is often an imprecise diagnosis in high complexity paediatric services. No consensus was found in the literature search on how to treat patients after the initial diagnosis. The evidence that it becomes chronic is not strong enough, just as the evidence is not convincing enough to argue that comorbidity factors are those maintained over time. Clearly, there is no medical experience of the natural history of this disorder in children and adolescents. It is only known is that it is a complex condition, on which there is experience only in the diagnosis and treatment of the acute state, but not so in the long-term care. It is proposed that each patient is studied in detail in order to define the psychiatric diagnosis and its treatment.

Trastornos psiquiátricos en pacientes pediátricos con lupus eritematoso sistémico en un hospital de referencia / Psychiatric Disorders in Pediatric Patients With Systemic Lupus Erythematosus in a Reference Hospital

Objetivo: Describir las manifestaciones psiquiátricas de pacientes con lupus eritematoso sistémico atendidos en la Fundación Hospital de la Misericordia. Métodos: Estudio observacional descriptivo. Se revisaron historias clínicas y paraclínicos de pacientes hospitalarios y ambulatorios (2007-2013). Se seleccionó a 39 pacientes. Se utilizó SPSS19 para el análisis estadístico. Se consideró estadísticamente significativo un valor de p < 0,05. Resultados: La media de edad era 13,7 ± 2,33 (7-17) años; el 78,9% eran mujeres. Las manifestaciones psiquiátricas fueron trastorno de ansiedad (52,6%), trastorno adaptativo y depresión (el 36,8% cada uno), psicosis (10%), trastorno conversivo (7,9%) y trastorno obsesivo compulsivo (5,3%). La puntuación SLICC media fue 2,76 ± 2,8 y la SLEDAI, 20,81 ± 20,82. Los anticuerpos antinucleares fueron positivos en el 81,25%. El 65,8% tenía diagnóstico de lupus neuropsiquiátrico, el 23,7% con crisis epilépticas, el 36,8% con cefalea, el 13,2% con accidente cerebrovascular, y vasculitis, corea y meningitis (el 5,3% cada una). El tiempo promedio desde el diagnóstico fue 20,47 ± 22,2 meses, mínimo para trastorno adaptativo (15 meses) y máximo para trastorno conversivo (seudocrisis) (31 meses). Los pacientes con psicosis presentaron las más altas puntuaciones de actividad lúpica (35,5 ± 16,21 frente a 19,08 ± 13,72; p = 0,032) y daño por la enfermedad (SLICC, 4,25 ± 4,03 frente a 2,58 ± 2,67; p = 0,27) en comparación con otros diagnósticos. Conclusiones: Las manifestaciones psiquiátricas más frecuentes fueron trastorno de ansiedad, adaptativo y depresión, con frecuencias mayores que lo reportado en otras poblaciones. Se demostró actividad lúpica principalmente en los pacientes con psicosis.

Objective: To describe the psychiatric manifestations in pediatric patients with systemic erythematous lupus seen in the Fundación Hospital de la Misericordia. Methods: Observational descriptive study. Medical charts and test results of inpatients and outpatients between 2007 and2013 were reviewed; 39 patients were selected. SPSS 19 was used for statistical analysis. Statistical significance was considered with P= .05. Results: Mean age was 13.7 (2.33), with 78.9% female. The most frequent psychiatric manifestation was anxiety (52.6%), followed by adjustment disorder and depression (36.8% each one), psychosis (10%), conversion disorder (7.9%), and obsessive compulsive disorder (5.3%). The mean SLICC score was 2.76 (2.8), and the mean SLEDAI score was 20.81 (20.82). Antinuclear antibodies were positive in 81.25%. Neuropsychiatric lupus was diagnosed in 65.8% of patients; seizures were observed in 23.7%, headache in 36.8%, stroke in 13.2%, vasculitis, chorea 5.3%, and meningitis 5.3% of patients. The mean time from lupus diagnosis was 20.47 (22.2) months, with the shortest period for adjustment disorder and the longest period in patients with conversion disorder (pseudo-seizures) being 15 months and 31 months, respectively. The highest SLEDAI score was in patients with psychosis (35.5 [16.21] vs 19.08 [13.72]; P = .032), and also the highest disease damage (SLICC, 4.25 [4.03] vs 2.58 [2.67]; P = .27) in comparison with the other manifestations. Conclusions: The most frequent psychiatric manifestations were anxiety, depression, and adjustment disorder, with a higher frequency than other studies, and with lupus activity principally in patients with psychosis.

Caracterización clínica y epidemiológica de los pacientes con reacción por medicamentos con eosinofilia y síntomas sistémicos (DRESS) en el Hospital Nacional de Niños Benjamín Bloom en los años 2010 al 2016 / Clinical and epidemiological characterization of patients with drug reaction with eosinophilia and systemic symptoms (DRESS) at the Benjamin Bloom National Children's Hospital in the years 2010 to 2016

El síndrome de reacción por medicamentos con eosinofilia y síntomas sistémicos (DRESS, por sus siglas en inglés) es una afección grave, caracterizada por erupción cutánea, fiebre, anomalías hematológicas y afectación multiorgánica, que puede ser fatal si no se reconoce. El diagnóstico puede ser difícil, ya que rara vez se describe en niños y puede imitar muchas condiciones diferentes. La investigación ha sido de tipo descriptivo, de cohorte histórico incluyendo todos los casos que cumplan los criterios diagnósticos bajo el sistema de puntuación para clasificación de casos de DRESS, como definitivo, probable, posible o negativo bajo el sistema de puntuación RegiSCAR, en pacientes de entre 0 a 18 años de ambos sexos entre los años 2010 a 2016. Se estudian un total de 17 casos, la mayoría pertenecen al grupo de 7 a 9 años de edad con un 47% de los casos (8 casos). El grupo de medicamentos más frecuentemente asociado fueron los anticonvulsivantes, con un 88% de casos (15 casos), el de mayor incidencia Fenitoína con 10 casos en total. El 100% de los casos presentaron una afectación hepática, con 2 casos de afectación renal y 1 de afectación pulmonar. El tipo de exantema más frecuentemente asociado fue el exantema maculopapular. El síntoma más frecuente fue fiebre, seguido de exantema y linfadenopatías. De los casos 10 se clasificaron en RegiSCAR como caso definitivo de DRESS, 7 casos se clasificaron como caso probable