Evaluación de la efectividad de la timectomía como tratamiento de la Miastenia Gravis

Objetivo: evaluar efectividad de timectomía como alternativa de tratamiento a la Miastenia Gravis (MG) en nuestro centro, entre 2007 y 2019, y cómo ha impactado en calidad de vida y manejo farmacológico. Material y Método: cohorte retrospectiva de pacientes sometidas a timectomía por equipo Cirugía Torácica del Hospital Gustavo Fricke (HGF) entre 2007 y 2019. Las variables fueron el tratamiento médico y dosis de anticolinesterásicos pre y post timectomía, y la calidad de vida medida a través de la encuesta MG-QOL15. Se utilizaron medidas de desviación estándar y comparaciones estadísticas para el análisis de estas variables, considerando estadísticamente significativo un p < 0,05. Resultados: total de 20 pacientes, mayoría mujeres jóvenes, timectomía vía transesternal. Dosis de anticolinesterásicos mostró disminución estadísticamente significativa de 5,05 a 3,06 pre y post timectomía respectivamente (p < 0,05). Encuesta MG-QOL15 media de 11,9 puntos. Discusión: Se ha demostrado que la timectomía cumple un rol importante en el manejo de la MG, otorgando una superioridad frente al tratamiento médico exclusivo. La Fundación Americana para Miastenia Gravis, recomienda el uso de la encuesta MG-QOL15 como herramienta para evaluar la calidad de vida. Existe poca literatura nacional en relación a este tema. Conclusión: La timectomía, es un procedimiento que mejora la calidad de vida de los pacientes con MG y permite reducir en forma significativa la dosis de fármacos utilizados.

Objective: To evaluate effectivity of thymectomy as an alternative treatment of MG in our center, between 2007 and 2019 and to know how it has impacted in life quality and pharmacological management. Material and Method: cohort study patients treated with thymectomy by Thoracic Surgical team from Gustavo Fricke Hospital between 2007 and 2019. The study variables were medical treatment and anticholinesterases doses before and after the thymectomy, and life quality measured through MG-QOL15 survey. Standard deviation measures and statistics comparisons were used for the analysis of these variables, considering statistically significant a p < 0.05. Results: total of 20 patients, mainly young women, thymectomy through a Trans-sternal approach. Anticholinesterase doses, showed a statistically significant decrease from 5.05 to 3.06 before and after thymectomy (p < 0.05). Discussion: It has been demonstrated that thymectomy plays an important role on the management of MG, giving a mastery against medical exclusive treatment, The American Foundation for Myasthenia Gravis recommends the use of MG-QOL15 survey as an important tool to evaluate life quality. There is a limited amount of national literature related to this topic. Conclusion: Thymectomy is a life quality changing procedure for MG patients and it helps to significantly reduce the drug doses used.

Characteristics and Therapeutic Needs of Older Patients with Oropharyngeal Dysphagia Admitted to a General Hospital.

BACKGROUND: Oropharyngeal dysphagia (OD) is a prevalent geriatric syndrome causing severe nutritional and respiratory complications. OBJECTIVE: We aimed to describe the characteristics and therapeutic needs of older patients with OD admitted to a general hospital. DESIGN, PARTICIPANTS AND MEASUREMENTS: Prospective cohort study with patients (≥70 years) with OD consecutively admitted to a general hospital. OD was clinically assessed with the Volume-Viscosity Swallowing Test and nutritional status with the Mini Nutritional Assessment-short form. Oral health (OH) and periodontal diseases were evaluated by dentists. Functionality, frailty, sarcopenia, comorbidities, dehydration, quality of life (QoL) and mortality were also assessed. RESULTS: We included 235 patients (87.3±5.5 years) with OD hospitalized for acute diseases (9.6±7.6 days). On admission, they had low functionality (Barthel: 51.3±25.1), frailty (Fried: 3.9±0.9; Edmonton: 10.3±2.7, 87.2-91.1% frail) and high comorbidities (Charlson: 3.7±2.0). Moreover, 85.1% presented signs of impaired safety and 84.7% efficacy of swallow. Up to 48% required fluid adaptation with a xanthan gum-based thickener (89.4% at 250 mPa·s; 10.6% at 800 mPa·s) and 93.2% a texture-modified diet (TMD) (74.4%, fork-mashable; 25.6%, pureed). A total of 98.7% had nutritional risk, 32.3% sarcopenia and 75.3% dehydration. OH was moderate (Oral Hygiene Index-simplified: 2.0±1.3) and 67.4% had periodontitis. QoL self-perception was 62.2% and 5.5% of patients died during hospitalization. CONCLUSION: Hospitalized older OD patients have impaired safety of swallow, frailty, malnutrition, dehydration, low functional capacity and poor OH and high risk of respiratory infections. They need a multimodal intervention including fluid thickening, TMD, thickened oral nutritional supplementation and OH care to improve health status and reduce OD-associated complications.

[Obstacles and enablers for the use of barrier methods to avoid HIV/AIDS transmission]. / Obstáculos y facilitadores para el uso de métodos de barrera para la transmisión de VIH/SIDA.

BACKGROUND: There is an increase in HIV/AIDS transmission rates world-wide Aim: To explore obstacles and facilitators in the use of barrier methods for the prevention of HIV/AIDS among Chilean young people between 20 and 29 years of age. MATERIAL AND METHODS: During the second semester of the year 2020, 134 young Chileans answered an online questionnaire with open-ended questions about barrier methods. A qualitative methodology that considered the main techniques of grounded theory for data analysis was used. RESULTS: There are individual, interpersonal, sociocultural, and structural factors that operate as obstacles and facilitators for the use of barrier methods to prevent the transmission of HIV/AIDS. CONCLUSIONS: There are culturally embedded beliefs among young people, such as, a perception of invulnerability caused by not being part of risk groups, among others, that affect self-care.

N-acetylcysteine as a therapeutic approach to post-COVID-19 pulmonary fibrosis adjunctive treatment.

OBJECTIVE: Growing interest is directed to the outcomes of COVID-19 in survivors, both in the convalescent period and in the long-term, which are responsible for morbidity and quality of life deterioration. This article aims to describe the mechanisms supporting the possible use of NAC as an adjuvant treatment for post-COVID-19 pulmonary fibrosis. MATERIALS AND METHODS: A search was performed in PubMed/MEDLINE. RESULTS: Interstitial changes have been observed in the CT scan of COVID-19 pneumonia. In patients with respiratory outcomes in the post-COVID-19 stage, glutathione (GSH) deficiency was found and interpreted as a reaction to the inflammatory cascade caused by the viral infection, while the pathophysiological process of pulmonary fibrosis involves numerous cytokines, such as TGF-ß, TNF-α, IL-1, PDGF and VEGF. NAC has a good tolerability profile, is easily administered orally and inexpensively, and has antioxidant and anti-inflammatory effects that may target the pathophysiologic mechanisms involved in pulmonary fibrosis. It may revert GSH deficiency, exerts direct and indirect antioxidant activity, anti-inflammatory activity and improves immune T-cell response. CONCLUSIONS: The mechanism of action of NAC suggests a role in the treatment of pulmonary fibrosis induced by COVID-19.

Obstáculos y facilitadores para el uso de métodos de barrera para la transmisión de VIH/SIDA

Background: There is an increase in HIV/AIDS transmission rates world-wide Aim: To explore obstacles and facilitators in the use of barrier methods for the prevention of HIV/AIDS among Chilean young people between 20 and 29 years of age. Material and Methods: During the second semester of the year 2020, 134 young Chileans answered an online questionnaire with open-ended questions about barrier methods. A qualitative methodology that considered the main techniques of grounded theory for data analysis was used. Results: There are individual, interpersonal, sociocultural, and structural factors that operate as obstacles and facilitators for the use of barrier methods to prevent the transmission of HIV/AIDS. Conclusions: There are culturally embedded beliefs among young people, such as, a perception of invulnerability caused by not being part of risk groups, among others, that affect self-care.

Effect of Situational Factors on the Rate of Perceived Exertion of Liga Femenina 2 Players / Efecto de factores situacionales en la tasa de esfuerzo percibido de jugadoras de Liga Femenina 2

The aim of the study is to understand the impact of certain situational variables (game location, season phase, game outcome, score-line and quality of opposition) on the rate of perceived exertion (RPE) of women players of Liga Femenina 2 in competition. 24 matches played by 12 players of a team from group B of Liga Femenina 2 of the Spanish Basketball Federation during the 2019/2020 season were analysed. The RPE of the players was collected between 20 and 30 minutes after the end of the game. A multiple regression analysis was performed, considering the five situational variables as predictors of RPE. The results show that 44.61% of the RPE values are explained by these situational variables in a statistically significant way. Of the 5 situational variables analysed, the game location and the quality of opposition are dependent on the RPE. Playing away and against a weaker opponent is directly related to a higher RPE of the players in competition.(AU)

Polymorphisms in eicosanoid-related biosynthesis enzymes associated with acute urticaria/angioedema induced by nonsteroidal anti-inflammatory drug hypersensitivity.

BACKGROUND: Nonsteroidal anti-inflammatory drugs (NSAIDs) are the main triggers of drug hypersensitivity, with NSAID-induced acute urticaria/angioedema (NIUA) the most frequent phenotype. NSAID hypersensitivity is caused by cyclooxygenase 1 inhibition, which leads to an imbalance in prostaglandin (PG) and cysteinyl leukotriene (CysLT) synthesis. As only susceptible individuals develop NSAID hypersensitivity, genetic factors are believed to be involved; however, no study has assessed the overall genetic variability of key enzymes in PG and CysLT synthesis in NSAID hypersensitivity. OBJECTIVES: To evaluate simultaneously variants in the main genes involved in PG and CysLT biosynthesis in NIUA. METHODS: Two independent cohorts of patients were recruited in Spain, alongside NSAID-tolerant controls. The discovery cohort included only patients with NIUA; the replication cohort included patients with NSAID-exacerbated respiratory disease (NERD). A set of tagging single-nucleotide polymorphisms (tagSNPs) in PTGS1, PTGS2, ALOX5 and LTC4S was genotyped using mass spectrometry coupled with endpoint polymerase chain reaction. RESULTS: The study included 1272 individuals. Thirty-five tagSNPs were successfully genotyped in the discovery cohort, with three being significantly associated after Bonferroni correction (rs10306194 and rs1330344 in PTGS1; rs28395868 in ALOX5). These polymorphisms were genotyped in the replication cohort: rs10306194 and rs28395868 remained associated with NIUA, and rs28395868 was marginally associated with NERD. Odds ratios (ORs) in the combined analysis (discovery and replication NIUA populations) were 1·7 for rs10306194 [95% confidence interval (CI) 1·34-2·14; Pcorrected = 2·83 × 10-4 ) and 2·19 for rs28395868 (95% CI 1·43-3·36; Pcorrected = 0·002). CONCLUSIONS: Variants of PTGS1 and ALOX5 may play a role in NIUA and NERD, supporting the proposed mechanisms of NSAID-hypersensitivity and shedding light on their genetic basis.

Brain-Computer Interfaces for upper limb motor rehabilitation of stroke patients / Interfaces Cerebro-Computadora para la Rehabilitación Motora de Miembro Superior de Pacientes con Enfermedad Vascular Cerebral

Abstract Brain-Computer Interfaces (BCI) decode users' intentions from the central nervous system and could be applied for upper limb motor rehabilitation of patients that have suffered stroke, one of the main causes of disability worldwide. Despite that research groups have reported the efficacy of these systems, a consensus has not yet been reached regarding their true potential. For this reason, a review of up-to-date assessments of BCI for upper limb stroke rehabilitation is presented from the perspective of analyzing common and different design variables presented across studies. Clinical and pilot studies with a control group were included in the review. Most BCI interventions assessments were performed with robotic assistive devices as feedback, followed by neuromuscular electrical stimulation (NMES) and visual feedbacks. Compared to other experimental interventions, the effects of a BCI intervention have been reported in a low number of patients. In addition, high variability between studies' designs such as stroke etiology and interventions' duration, do not allow to assess the potential of BCI for stroke rehabilitation. However, a trend towards significant rehabilitation outcomes with BCI systems can be highlighted, encouraging research groups to better coordinate in order to make valuable contributions to the field.

Resumen Las interfaces cerebro-computadora (BCI) decodifican del sistema nervioso central las intenciones de los usuarios, y pueden ser aplicadas para la rehabilitación motora del miembro superior de pacientes con enfermedad vascular cerebral (EVC), una de las principales causas de discapacidad a nivel mundial. A pesar de que diversos grupos han reportado la eficacia de estos sistemas, no se ha logrado un consenso sobre su verdadero potencial. Por esta razón, una revisión de la evaluación reciente de las BCI para rehabilitación del miembro superior en la EVC es presentado desde la perspectiva de analizar diferencias y similitudes entre las variables reportadas en los estudios. En la esta revisión se incluyeron estudios clínicos y pilotos con un grupo control. La mayor parte de los estudios utilizaron sistemas robóticos como retroalimentación, seguido por estimulación eléctrica neuromuscular y retroalimentación visual. En comparación con otras terapias experimentales, los efectos de intervenciones con BCI se han reportado en pocos pacientes. Además, la alta variabilidad en el diseño de los estudios, como la etiología de la EVC y la duración de las intervenciones, no permiten comparar los efectos de las terapias BCI. Sin embargo, se puede resaltar una tendencia hacia recuperaciones motoras significativas con BCI, motivando a grupos de investigación a coordinarse de mejor forma para continuar realizando contribuciones al campo.

Outcome of a hemispherical porous-coated acetabular component with a proximally hydroxyapatite-coated anatomical femoral component: an update at 23 to 26 years' follow-up

AIMS: We previously reported the long-term results of the cementless Duraloc-Profile total hip arthroplasty (THA) system in a 12- to 15-year follow-up study. In this paper, we provide an update on the clinical and radiological results of a previously reported cohort of patients at 23 to 26 years´ follow-up. PATIENTS AND METHODS: Of the 99 original patients (111 hips), 73 patients (82 hips) with a mean age of 56.8 years (21 to 70) were available for clinical and radiological study at a minimum follow-up of 23 years. There were 40 female patients (44 hips) and 33 male patients (38 hips). RESULTS: All acetabular and femoral components were well fixed and showed signs of bone ingrowth. Nine acetabular components were revised due to wear-osteolysis-related problems and four due to late dislocation. The probability of not having component revision at 25 years was 83.2% (95% confidence interval (CI) 74.5 to 91.8; number at risk 41). Acetabular osteolysis was observed in ten hips. The mean femoral head penetration was 1.52 mm (sd 0.8) at 15 years and 1.92 mm (sd 1.2) at 25 years. Receiver operating characteristic (ROC) analysis revealed that mean femoral penetration with a value of 0.11 mm/year or more was associated with the appearance of osteolysis. The 25-year Kaplan-Meier survival with different endpoints was 89.9% for acetabular osteolysis (95% CI 83.3 to 96.5), 92.1% for proximal femoral osteolysis (95% CI 86.1 to 98.2), and 75.5% for femoral osteopenia (95% CI 66.5 to 84.5). CONCLUSION: The Duraloc-Profile THA system showed excellent long-term bone fixation. Nevertheless, monitoring is recommended in order to detect wear and late dislocations in this population that was relatively young at the time of surgery. Cite this article: Bone Joint J 2019;101-B:378-385.

Motion deficit in nodal interphalangeal joint osteoarthritis by digital goniometer in housewives.

Range of motion (ROM) measured objectively in nodal hand osteoarthritis (NHOA) is missing. Evaluation of collateral ligaments by ultrasound (US) is unknown in NHOA also. To compare ROM in interphalangeal joints in housewives with nodal OA, with a control group by a digital system using angle to voltage (Multielgon). The second objective was to assess correlation between collateral radial and ulnar ligaments thickness and ROM. For this cross-sectional observational study, we assessed 60 hands with symptomatic NHOA and 30 hands of healthy housewives matched for age. We obtained clinical and demographic characteristics (a complete standardized physical examination of hand joints, DASH questionnaire, pain surveys, gross grasp hand goniometer, and ROM measurements by Multielgon. Presence of synovitis, power Doppler signal, osteophytes, and collateral ligaments thickness was evaluated by US. We used descriptive statistics, Spearman correlation, X2 test, t test and odds ratio. Significant less gross grasp and ROM in the right hand were observed in NHOA (p = 0.01 for both). Presence of OA, painful joints, disease duration, and score DASH were significant correlated with reduced ROM (OR 4.12, 4.12, 1.04 and 1.09, respectively). Reduced ROM was statistical significant in thumb MCP and IP joints, second and third DIP in dominant hand. There was no association between collateral radial and ulnar ligaments and reduced ROM. Synovitis and osteophytes were more prevalent in OA group. Multielgon demonstrated the pattern of reduced ROM in nodal OA of housewives particularly in MCP and IP thumb joints, second and third distal interphalangeal joints.

Specific immunotherapy in local allergic rhinitis: A randomized, double-blind placebo-controlled trial with Phleum pratense subcutaneous allergen immunotherapy.

BACKGROUND: Allergen immunotherapy has been shown to be an effective treatment for local allergic rhinitis (LAR) to house dust mites. Studies with pollen allergen immunotherapy are limited to observational studies. The aim of this study was to evaluate the clinical efficacy and safety of Phleum pratense subcutaneous immunotherapy (Phl-SCIT) in LAR. METHODS: In a randomized double-blind placebo-controlled study, 56 patients with moderate-severe LAR to grass pollen received Phl-SCIT with a depigmented polymerized pollen vaccine or placebo for the first year, and Phl-SCIT the second one. The blind was maintained throughout the study. Primary outcome was combined symptom medication score (CSMS) during grass pollen season (GPS). Secondary clinical outcomes included organ-specific symptoms, medication-free days, rhinitis severity and asthma control. Rhinoconjunctivitis Quality of Life Questionnaire (RQLQ), nasal allergen provocation test (NAPT), skin testing, serum levels of specific IgG4 and specific IgE and safety were also evaluated. RESULTS: Subcutaneous immunotherapy (SCIT) had a short-term and sustained effect with significant improvements of all primary and secondary clinical outcomes and RQLQ score. SCIT significantly increased serum sIgG4 levels and allergen tolerance, from the 6th to 24th months of treatment. At the end of the study, 83% of patients treated with ≥6 months of SCIT tolerated a concentration of P. pratense over 50 times higher than baseline, and 56% gave a negative NAPT. SCIT was well tolerated; six mild local reactions occurred, and there were no serious adverse events related to the study medication. CONCLUSIONS: Subcutaneous immunotherapy with depigmented polymerized allergen extracts is a safe and clinically effective treatment for LAR to P. pratense.

Update on the Genetic Basis of Drug Hypersensitivity Reactions.

Drug hypersensitivity reactions (DHRs) are unpredictable, complex responses to medicines in predisposed individuals. They represent a major health problem owing to the number of patients affected and the severity of the clinical conditions they can induce. In addition to environmental factors, the underlying mechanisms of DHRs are also influenced by genetic factors, although considerable gaps remain in our knowledge. Therefore, further study of the genetics of DHRs is necessary to shed light on their underlying mechanisms. In this manuscript, we provide an update on the genetic basis of the most frequent types of DHRs, including those mediated by immunological and nonimmunological mechanisms. For the first group, we will focus on immediate reactions to ß-lactam antibiotics, which are associated mainly with the IgE pathway (IL13, IL4R, LGALS3, and NOD2) and antigen presentation (HLA-DRA), and nonimmediate reactions to allopurinol, anticonvulsants, antibiotics, and antiretrovirals, which are often associated with polymorphisms in the HLA system. For the second group, we will focus on nonsteroidal anti-inflammatory drugs, which are mostly associated with genetic variants in enzymes and receptors from the arachidonic acid pathway (eg, ALOX5, ALOX5AP, PTGDR, and CYSLTR1). The information provided here will be of interest for medical practitioners from a range of disciplines who come across these reactions in their clinical practice, as well as for allergologists.

Update on the genetic basis of drug hypersensitivity reactions

Drug hypersensitivity reactions (DHRs) are unpredictable, complex responses to medicines in predisposed individuals. They represent a major health problem owing to the number of patients affected and the severity of the clinical conditions they can induce. In addition to environmental factors, the underlying mechanisms of DHRs are also influenced by genetic factors, although considerable gaps remain in our knowledge. Therefore, further study of the genetics of DHRs is necessary to shed light on their underlying mechanisms. In this manuscript, we provide an update on the genetic basis of the most frequent types of DHRs, including those mediated by immunological and nonimmunological mechanisms. For the first group, we will focus on immediate reactions to β-lactam antibiotics, which are associated mainly with the IgE pathway (IL13, IL4R, LGALS3, and NOD2) and antigen presentation (HLA-DRA), and nonimmediate reactions to allopurinol, anticonvulsants, antibiotics, and antiretrovirals, which are often associated with polymorphisms in the HLA system. For the second group, we will focus on nonsteroidal anti-inflammatory drugs, which are mostly associated with genetic variants in enzymes and receptors from the arachidonic acid pathway (eg, ALOX5, ALOX5AP, PTGDR, and CYSLTR1). The information provided here will be of interest for medical practitioners from a range of disciplines who come across these reactions in their clinical practice, as well as for allergologists (AU)

Las reacciones de hipersensibilidad a fármacos (RHFs) son respuestas no predecibles que se producen en algunos sujetos y que representan un serio problema de salud pública debido al número de pacientes implicados y a su potencial gravedad. Además de factores ambientales, en estas reacciones también participan factores genéticos, cuya influencia está, en la mayoría de los casos, aún por dilucidar. En este manuscrito describiremos la información disponible sobre la base genética de los tipos más frecuentes de RHFs, tanto de las mediadas nmunológicamente como de aquellas en las que no se requiere reconocimiento antigénico. En el primer grupo nos ocuparemos de las reacciones inmediatas a antibióticos β-lactámicos, que han sido asociadas con variantes relacionadas con la IgE (IL13, IL4R, LGALS3 y NOD2) y la presentación antigénica (HLA-DRA), y de las reacciones no inmediatas a diferentes grupos de medicamentos (alopurinol, anticonvulsivos, antibióticos y antiretrovirales), relacionadas fundamentalmente con polimorfismos en el sistema HLA. En el segundo rupo nos centraremos en las reacciones inducidas por antiinflamatorios no esteroideos (AINE), que han sido asociadas básicamente con variantes en enzimas y receptores de la vía del ácido araquidónico (ALOX5, ALOX5AP, PTGDR y CYSLTR1, entre otros). Esta revisión puede ser de interés no sólo para alergólogos, sino para los profesionales de otras disciplinas que se enfrentan a este tipo de reacciones en el desarrollo de su práctica clínica (AU)

Novedades en cirugía de columna vertebral en 2015 / No disponible

En este artículo de revisión, queremos destacar las principales novedades y curiosidades alrededor de la cirugía de columna que se han publicado el año 2015. Aunque, el año pasado no han sido publicadas grandes novedades en nuestra área de estudio, nosotros queremos hacer hincapié en los aspectos que nos han parecido más relevantes sobre cirugía de columna. Dado que la cirugía de columna representa una importante carga asistencial sanitaria y social. Los estudios aquí reflejados intentan dar respuestas a las múltiples demandas pendientes. Así es como abordaremos temas como la artrodesis cervical vs prótesis cervicales, uso local de vancomicina en polvo, vitamina D, mejoras en las técnicas de cementación vertebral, uso de agentes biológicos, escoliosis idiopática del adolescente y factores de riesgo para la cirugía de columna

In this revision article we want to highlight some news and curiosities around the spine surgery published during 2015. Although last year, they have not been published major innovations in spinal surgery, we want to emphasize some aspects that we consider interesting and useful in our working area. Spinal surgery is a major social and health burden, so the studies reflected here attempt to answer outstanding claims. This is how we address issues such as cervical arthrodesis vs cervical prostheses, use of local powder vancomycin, use of vitamin D, improving vertebral cementation techniques, risk factors for spine surgery, use of biological agents and adolescent idiopathic scoliosis

Sensor fault detection and isolation system for a condensation process.

This article presents the design of a sensor Fault Detection and Isolation (FDI) system for a condensation process based on a nonlinear model. The condenser is modeled by dynamic and thermodynamic equations. For this work, the dynamic equations are described by three pairs of differential equations which represent the energy balance between the fluids. The thermodynamic equations consist in algebraic heat transfer equations and empirical equations, that allow for the estimation of heat transfer coefficients. The FDI system consists of a bank of two nonlinear high-gain observers, in order to detect, estimate and to isolate the fault in any of both outlet temperature sensors. The main contributions of this work were the experimental validation of the condenser nonlinear model and the FDI system.

The Genetics of Drug Hypersensitivity Reactions.

DHRs are induced by various mechanisms and encompass a heterogeneous set of potentially life-threatening clinical entities. In addition to environmental effects, individual factors play a key role in this intricate puzzle. However, despite commendable efforts in recent years to identify individual predisposing factors, our knowledge of the genetic basis of these reactions remains incomplete. In this manuscript, we summarize current research on the genetics of DHRs, focusing on specific immune-mediated reactions (immediate and nonimmediate) and on pharmacologically mediated reactions (cross-intolerance to nonsteroidal anti-inflammatory drugs). We also provide some thoughts on potential technological approaches that would help us to decipher the molecular mechanisms underlying DHRs. We believe this manuscript will be of interest not only for allergists and basic researchers in the field, but also for clinicians from various areas of expertise who manage these reactions in their clinical practice.

Leptin and metabolic syndrome in patients with Duchenne/Becker muscular dystrophy.

OBJECTIVES: To determine whether patients with Duchenne/Becker muscular dystrophy (DMD/BMD) have components of metabolic syndrome (MetSy) and to evaluate whether leptin is associated with components of MetSy. METHODS: This study included 78 patients (nine, <6 years of age; 54, 6 to <16 years of age; and 15 patients, ≥16 years of age). Obesity and body fat mass were determined by waist circumference and dual-energy X-ray absorptiometry, respectively. A 12-h fasting blood sample was collected in the morning. Patients were categorized into four groups according to the number of criteria for MetSy: group 0: none; group 1: one; group 2: two and group 3: three or more criteria. RESULTS: All age groups showed components of MetSy. The concentration of these components was significantly higher in patients ≥16 years old. The prevalence of hypertriglyceridemia was from ~37% to 46% in all age groups. The prevalence of MetSy was 7.1% for patients from 6 to <16 years of age and 24% for patients ≥16 years of age. Serum leptin levels increased significantly (P < 0.05) with age; the highest (13.43 ± 9.4 ng/ml) value was observed in patients >16 years of age. Total leptin was correlated with the number of patients with MetSy (r = 0.383; P = 0.001). CONCLUSIONS: Components of MetSy are significant in patients with DMD/BMD. A high prevalence of hypertriglyceridemia was observed. Younger patients with DMD/BMD have risk factors for MetSy. Although leptin increased according to different degrees of MetSy, this relation disappeared when the body fat was corrected by leptin; therefore, the association could be caused by a common risk factor-fat.

Retinal development in the gilthead seabream Sparus aurata.

The retinal development of the gilthead seabream Sparus aurata has been analysed from late embryonic development to juvenile stages using classical histological and immunohistological methods. Five significant phases were established. Phases 1 and 2 comprise the late embryonic and hatching stages, respectively. The results indicate that during these early stages the retina is composed of a single neuroblastic layer that consists of undifferentiated retinal progenitor cells. Phase 3 (late prolarval stage) is characterized by the emergence of the retinal layers and the appearance of neurochemical profiles in differentiating photoreceptors, amacrine and ganglion cells. Phases 4 and 5 comprise the late larval and juvenile stages. In these stages, all the retinal cell types can be detected immunohistochemically. All the maturational events described are first detected in the central retina and, as development progresses, spread to the rest of the retina following a central-to-peripheral gradient. The results of this study suggest that S. aurata is an altricial teleost species that hatches with a morphologically undifferentiated retina. The most relevant processes involved in retinogenesis occur during the late prolarval stage (phase 3).

The genetics of drug hypersensitivity reactions

Drug hypersensitivity reactions (DHRs) are a major problem for healthcare systems, regulatory agencies, and the pharmaceutical industry. DHRs are induced by various mechanisms and encompass a heterogeneous set of potentially life-threatening clinical entities. In addition to environmental effects, individual factors play a key role in this intricate puzzle. However, despite commendable efforts in recent years to identify individual predisposing factors, our knowledge of the genetic basis of these reactions remains incomplete. In this manuscript, we summarize current research on the genetics of DHRs, focusing on specific immune-mediated reactions (immediate and nonimmediate) and on pharmacologically mediated reactions (cross-intolerance to nonsteroidal anti-inflammatory drugs). We also provide some thoughts on potential technological approaches that would help us to decipher the molecular mechanisms underlying DHRs. We believe this manuscript will be of interest not only for allergists and basic researchers in the field, but also for clinicians from various areas of expertise who manage these reactions in their clinical practice (AU)

Las reacciones de hipersensibilidad a fármacos (RHFs) son un problema preocupante para los sistemas de salud, las agencias reguladoras y la industria. Además de la diversidad de mecanismos implicados, las RHFs incluyen un conjunto heterogéneo de entidades clínicas que pueden amenazar la vida del paciente. A esta complejidad se añade el hecho de que, además de factores ambientales, en ellas participan factores individuales. A pesar del considerable esfuerzo desarrollado en los últimos años en la identificación de los factores individuales que predisponen a la aparición de estas reacciones, nuestro conocimiento sobre la base genética de las RHFs es todavía limitado. En esta revisión se presentan los datos disponibles sobre la genética de las RHFs, tomando como modelo las reacciones mediadas por mecanismos inmunológicos específicos (anticuerpos IgE y células T, reacciones inmediatas y no inmediatas) así como las mediadas por mecanismos farmacológicos (intolerancia cruzada a anti-inflamatorios no esteroideos). También se destacan las aproximaciones tecnológicas que pueden proporcionar información fundamental sobre los mecanismos moleculares que subyacen en estas reacciones. Creemos que este manuscrito será útil no solo para alergólogos e investigadores básicos en éste área, sino también para otros profesionales de la medicina que pueden encontrarse con este tipo de reacciones en su práctica clínica (AU)