Nitrospirillum viridazoti sp. nov., an Efficient Nitrogen-Fixing Species Isolated from Grasses.

A group of Gram-negative plant-associated diazotrophic bacteria belonging to the genus Nitrospirillum was investigated, including both previously characterized and newly isolated strains from diverse regions and biomes, predominantly in Brazil. Phylogenetic analysis of 16S rRNA and recA genes revealed the formation of a distinct clade consisting of thirteen strains, separate from the formally recognized species N. amazonense (the closest species) and N. iridis. Comprehensive taxonomic analyses using the whole genomes of four strains (BR 11140T = AM 18T = Y-2T = DSM 2788T = ATCC 35120T, BR 11142T = AM 14T = Y-1T = DSM 2787T = ATCC 35119T, BR 11145 = CBAmC, and BR 12005) supported the division of these strains into two species: N. amazonense (BR 11142 T and BR 12005) and a newly proposed species (BR 11140 T and BR 11145), distinct from N. iridis. The phylogenomic analysis further confirmed the presence of the new Nitrospirillum species. Additionally, MALDI-TOF MS analysis of whole-cell mass spectra provided further evidence for the differentiation of the proposed Nitrospirillum species, separate from N. amazonense. Analysis of chemotaxonomy markers (i.e., genes involved in fatty acid synthesis, metabolism and elongation, phospholipid synthesis, and quinone synthesis) revealed that the new species highlights high similarity and evolutionary convergence with other Nitrospirillum species. This new species exhibited nitrogen fixation ability in vitro, it has similar NifHDK protein phylogeny position with the closest species, lacked denitrification capability, but possessed the nosZ gene, enabling N2O reduction, distinguishing it from the closest species. Despite being isolated from diverse geographic regions, soil types, and ecological niches, no significant phenotypic or physiological differences were observed between the proposed new species and N. amazonense. Based on these findings, a new species, Nitrospirillum viridazoti sp. nov., was classified, with the strain BR 11140T (DSM 2788T, ATCC 35120T) designated as the type strain.

A cross-sectional investigation of disfluencies in typically developing Spanish-English bilingual children.

PURPOSE: This study examined the language skills and the type and frequency of disfluencies in the spoken narrative production of typically developing Spanish-English bilingual children. METHOD: A cross-sectional sample of 106 bilingual children (50 boys; 56 girls) enrolled in kindergarten through Grade 4, produced a total of 212 narrative retell language samples in English and Spanish. A specialized fluency coding system was implemented to index the percentage of total (%TD) and stuttering-like disfluencies (%SLD) in each language. Large-scale reference databases were used to classify children's dual language proficiency profiles (balanced, English dominant, Spanish dominant) based on language sample analysis measures of morphosyntax and lexical diversity. RESULTS: The bilingual Spanish-English children in this study did not demonstrate significant cross-linguistic differences for mean %TD or %SLD. However, the mean %TD and %SLD in both languages exceeded the risk threshold based on monolingual English-speaking norms. English dominant bilingual children demonstrated significantly lower %TD in English than Spanish. Spanish dominant children demonstrated significantly lower %SLD in Spanish than English. CONCLUSIONS: This study included the largest sample size of bilingual Spanish-English children investigated to date from a fluency perspective. The frequency of disfluencies was found to be variable across participants and change dynamically as a function of grade and dual language proficiency profiles, indicating the need for studies that employ larger sample sizes and longitudinal designs.

Characterization of Fe3O4 Nanoparticles for Applications in Catalytic Activity in the Adsorption/Degradation of Methylene Blue and Esterification.

The aim of this study is to evaluate the applicability of the catalytic activity (CA) of the Fe3O4 magnetic system in the adsorption/degradation of methylene blue and esterification. The thermal decomposition method allowed the preparation of Fe3O4 nanoparticles. The crystallites of the Fe3O4 structural phase present an acicular form confirmed by X-ray diffraction. Transmission electron microscopy results identified the acicular shape and agglomeration of the nanoparticles. Mössbauer spectroscopy showed that the spectrum is composed of five components at room temperature, a hyperfine magnetic field distribution (HMFD), two sextets, a doublet, and a singlet. The presence of the HMFD means that a particle size distribution is present. Fluorescence spectroscopy studied the CA of the nanoparticles with methylene blue and found adsorption/degradation properties of the dye. The catalytic activity of the nanoparticles was evaluated in the esterification reaction by comparing the results in the presence and absence of catalyst for the reaction with isobutanol and octanol, where it is observed that the selectivity for the products MIBP and MNOP is favored in the first three hours of reaction.

Characterization of Extracellular Vesicles Secreted by a Clinical Isolate of Naegleria fowleri and Identification of Immunogenic Components within Their Protein Cargo.

Extracellular vesicles (EVs) are small lipid vesicles released by both prokaryotic and eukaryotic cells, involved in intercellular communication, immunomodulation and pathogenesis. In this study, we performed a characterization of the EVs produced by trophozoites of a clinical isolate of the free-living amoeba Naegleria fowleri (N. fowleri). Size distribution, zeta potential, protein profile and protease activity were analyzed. Under our incubation conditions, EVs of different sizes were observed, with a predominant population ranging from 206 to 227 nm. SDS-PAGE revealed protein bands of 25 to 260 KDa. The presence of antigenic proteins was confirmed by Western blot, which evidenced strongest recognition by rat polyclonal antibodies raised against N. fowleri in the region close to 80 KDa and included peptidases, as revealed by zymography. Proteins in selected immunorecognized bands were further identified using nano-ESI-MS/MS. A preliminary proteomic profile of the EVs identified at least 184 proteins as part of the vesicles' cargo. Protease activity assays, in combination with the use of inhibitors, revealed the predominance of serine proteases. The present characterization uncovers the complexity of EVs produced by N. fowleri, suggesting their potential relevance in the release of virulence factors involved in pathogenicity. Owing to their cargo's diversity, further research on EVs could reveal new therapeutic targets or biomarkers for developing rapid and accurate diagnostic tools for lethal infections such as the one caused by this amoeba.

Central retinal artery occlusion and subsequent amaurosis fugax in the contralateral eye associated with the G20210A prothrombin gene (F2) variant: a case report.

PURPOSE: Report the case of a patient with a history of central retinal artery occlusion in her right eye and amaurosis fugax associated with acute ischemic changes in her left eye related to a prothrombin G20210A gene variant, in which OCT-A was used as a diagnostic and therapeutic tool. CASE PRESENTATION: 55-year-old woman with a history of central retinal artery occlusion in her right eye and prothrombin gene G20210A (F2) variant diagnosis. She presented to our consultation with amaurosis fugax in her left eye. As medical history, she had an episode of bilateral posterior scleritis diagnosed asynchronously with the current episode. Vascular, autoimmune, and metabolic prothrombotic diseases were ruled out. OCT-A showed areas suggesting acute ischemia consistent with macular retinopathy in her left eye. Anticoagulant therapy with Apixaban was initiated, considering the risk for her vision. Control OCT-A showed perfusion improvement in the previous site of the occlusive vascular event. We also considered the extent of the inflammatory response due to posterior scleritis as a differential diagnosis. Nevertheless, it is less likely, considering the temporality between scleritis and the retinal-vascular episodes. CONCLUSIONS: While the G20210A prothrombin gene (F2) variant is a rare cause of retinal artery occlusion, it is important to consider it a differential diagnosis. Good visual outcomes can be achieved with prompt initiation of antithrombotic treatment. In addition, OCT-A is useful for diagnosing ischemic retinal changes that cannot be observed with other diagnostic methods and monitoring them.

Fenómenos vasculares retinianos en esclerosis múltiple. Reporte de caso y revisión narrativa de la literatura / Retinal vascular phenomena in multiple sclerosis. Case report and narrative review of the literatura

Introducción: La esclerosis múltiple (EM) es la enfermedad inflamatoria desmielinizante del sistema nervioso central (SNC) más prevalente en el mundo. Puede presentar afectación a nivel ocular a través del compromiso inflamatorio de distinto tejidos. Objetivo: Dar a conocer la importancia del enfoque temprano de la esclerosis múltiple por parte del médico oftalmólogo. Diseño del estudio: Reporte de caso y revisión narrativa de la literatura. Resumen del caso: Se reporta el caso de una paciente joven con signos de vasculitis retiniana (VR) asociada a neuritis óptica bilateral y uveítis anterior como debut de inusual de la EM. Para la revisión narrativa se llevó a cabo la búsqueda avanzada en tres bases de datos electrónicas: PUBMED, LILACS y OVID. Por medio del gestor de referencias Zotero se realizó la eliminación de duplicados y lectura crítica de título y resumen de 162 artículos por parte de dos investigadores. Conclusión: La EM es una enfermedad crónica inflamatoria del SNC. Puede afectar las estructuras oculares de distintas maneras, una de ellas es la VR, que aunque se caracteriza por el compromiso de vasos venosos, hay que tener en cuenta presentaciones atípicas como hemorragias periarteriolares, aneurismas de grandes vasos, cierre capilar periférico, oclusión de arterial central de la retina, neovascularización del nervio óptico o aparición en etapas tempranas de la enfermedad. La fuerte asociación entre la VR y la actividad de la EM destaca la importancia del reconocimiento de patrones atípicos de una enfermedad que requiere del manejo y seguimiento oportuno por parte de neurología y oftalmología.

Background: Multiple sclerosis (MS) is the most prevalent infl ammatory demyelinating disease of the central nervous system (CNS) in the world. It may present involvement at the ocular level through the inflammatory compromise of different tissues. Objective: To provide knowledge on the importance of the early approach of multiple sclerosis by the ophthalmologist. Study design: Case report and narrative review of the literature. Case summary: We report the case of a young patient with signs of retinal vasculitis (RV) associated with bilateral optic neuritis and anterior uveitis as an unusual debut of MS. For the narrative review, the advanced search was carried out in three electronic databases: PUBMED, LILACS and OVID. Through the Zotero reference manager, the elimination of duplicates and critical reading of the title and summary of 162 articles by two researchers was carried out. Conclusion: MS is a chronic inflammatory disease of the CNS. It can affect the ocular structures in different ways, one of them is RV, which although it is characterized by the involvement of venous vessels, we must take into account atypical presentations such as periarteriolar hemorrhages, large vessel aneurysms,peripheral capillary closure, retinal artery occlusion, neovascularization of the optic nerve or appearance in the early stages of the disease. The strong association between RV and MS activity highlights the importance of recognizing atypical patterns of a disease that requires early management and follow-up by neurology and ophthalmology.

Correlates of Good Vision in Eyes With Subfoveal Scars From Neovascular Age-Related Macular Degeneration.

BACKGROUND AND OBJECTIVE: To compare subfoveal disciform scars with good and poor vision in patients with neovascular age-related macular degeneration (nAMD). PATIENTS AND METHODS: A retrospective case-control study. Twenty-two eyes of 21 consecutively treated patients with nAMD with subfoveal disciform scar and best-corrected visual acuity (BCVA) of 20/63 or better at the final visit were included. Twenty-one eyes of 21 matched patients with disciform scar and final BCVA less than 20/63 served as controls. RESULTS: Subretinal pigment epithelium scar location was more common in the good vision group than in the poor vision group (P < .001). The mean percent disruption of the ellipsoid and the external limiting membrane layers was significantly greater in poor vision eyes than in good vision eyes from scar formation and throughout follow-up (all P < .01). CONCLUSION: Preserved photoreceptor layer correlated with good vision in patients with nAMD and subfoveal disciform scar. [Ophthalmic Surg Lasers Imaging Retina. 2018;49:765-774.].

Long-Term Results of Pro Re Nata Regimen of Aflibercept Treatment in Persistent Neovascular Age-Related Macular Degeneration.

PURPOSE: To determine the 24-month results of patients who had pro re nata (PRN) aflibercept treatment owing to recurrent or resistant neovascular macular degeneration. DESIGN: Retrospective, interventional, consecutive case series. METHODS: Eighty-one eyes of 78 patients with resistant or multiple recurrences of intraretinal or subretinal fluid while receiving monthly bevacizumab or ranibizumab injections and were switched to strict, as-needed aflibercept treatment with every-8-weeks spectral-domain optical coherence tomography (SDOCT)-guided monitoring were included. If there was a persistence of fluid despite this treatment, more frequent aflibercept injections were considered. Anatomic outcomes including maximum retinal thickness, central macular thickness, maximum pigment epithelial detachment height, maximum fluid height, and visual acuity (VA) were assessed at given follow-ups. RESULTS: All anatomic endpoints significantly improved following 3 consecutive aflibercept injections, which were maintained through 24 months (P < .05 for all endpoints at all visits). Thirty-seven eyes (45.6%) required more frequent injections with monthly SDOCT-guided monitoring at a median of 37 weeks (interquartile range, 30-62 weeks) to adequately treat the retinal fluid. Seventy-one of 81 eyes (87.7%) became completely dry on at least 1 follow-up visit; however, there was no significant improvement in VA during the study period. CONCLUSION: Aflibercept injection with an as-needed regimen was effective in many eyes previously treated with monthly bevacizumab or ranibizumab injections that had persistent or recurrent fluid. Despite significant improvement in anatomic outcomes, vision remained stable throughout the 2-year follow-up, likely because this cohort of patients had advanced choroidal neovascular membrane upon enrollment (recurrent or resistant).

REAL-TIME FULL-DEPTH VISUALIZATION OF POSTERIOR OCULAR STRUCTURES: Comparison Between Full-Depth Imaging Spectral Domain Optical Coherence Tomography and Swept-Source Optical Coherence Tomography.

PURPOSE: To compare the real-time visualization of vitreoretino-choroidal structures using full-depth imaging (FDI) spectral domain optical coherence tomography (SD-OCT) and swept-source (SS)-OCT. METHODS: Foveal scans using both FDI SD-OCT (Heidelberg Spectralis) and SS-OCT (Topcon Deep Range Imaging-OCT-1) were obtained in 40 normal eyes, 40 eyes with macular pathologies, and 40 eyes with glaucoma. Full-depth imaging SD-OCT images were obtained by manually enhancing the vitreoretinal interface first and then the choroid while averaging each OCT B-scan 100 times. Swept-source-OCT images were obtained by averaging each B-scan 96 times. After masking and randomly mixing the original OCT images, two independent physicians graded visualization of the premacular bursa, interdigitation zone line, and chorioscleral boundary, and also sharpness of choroidal structures. RESULTS: A real-time full-depth image of vitreoretino-choroidal structures was successfully achieved with FDI SD-OCT in 118 cases (98.3%) and with SS-OCT in 45 cases (37.5%, P < 0.001). Full-depth imaging SD-OCT imaging was superior to SS-OCT imaging in visualizing the anterior border of the premacular bursa in 109 eyes (90.8%), with average grading of 1.63 ± 0.53 for the FDI SD-OCT and 0.39 ± 0.52 for the SS-OCT (P < 0.001). Swept-source-OCT was similar to FDI SD-OCT in visualizing the chorioscleral boundary in 108 eyes (90.0%), with average grading of 1.81 ± 0.39 for the SS-OCT and 1.78 ± 0.38 for the FDI-OCT (P = 0.566). The visualization of the interdigitation zone line was identical in the 2 imaging instruments (P = 1.000). The sharpness of the choroidal structures was greater with SS-OCT than with FDI-OCT (P < 0.001). CONCLUSION: Manual double-enhancing FDI technique using SD-OCT provided a good compromise between vitreous and retinochoroidal structures visualization in real time during scanning procedure. In contrast, SS-OCT imaged well details of choroidal sublayers. Appropriate OCT technology and software should be selected according to its application in clinical settings.

Outer retinal tubulations response to anti-VEGF treatment.

AIM: To review the longitudinal changes of outer retinal tubulations (ORTs) in wet age-related macular degeneration (AMD) and their response to anti-vascular endothelial growth factor (VEGF) therapy by spectral-domain optical coherence tomography (SD-OCT), and to correlate these observations with disease activity, presence or absence of fluid, and patients' demographics. METHODS: Retrospective study of wet AMD eyes treated with anti-VEGF agents and showing ORTs on SD-OCT, and the patients' fellow eye with wet AMD but without ORTs. RESULTS: Fifty-one wet AMD eyes from 31 patients diagnosed and treated for wet AMD were included in the review and analysis of data; 33 eyes showed ORTs at baseline, while 18 fellow eyes had no ORTs. During a median follow-up treatment period of 11 months, 23 eyes had stable ORTs and 10 eyes had ORT changes. Among the 10 eyes with ORTs changes, ORTs collapsed during anti-VEGF treatment in 5 eyes but then reappeared within 12 months after stopping treatment. In two eyes, ORTs increased in size during anti-VEGF treatment, while in two other eyes ORTs collapsed without any treatment. In a single eye, ORTs collapsed within 10 months of no treatment and did not reappear upon recurrence of fluid. Eyes with ORTs tended to have lower visual acuity than eyes with no ORTs due to greater disruption of the external limiting membrane in the fovea. CONCLUSIONS: ORTs documented by SD-OCT may exhibit multiple types of longitudinal changes, such as collapse, recurrence or enlargement, which could be associated with anti-VEGF treatment or spontaneous. Some ORTs may have a vascular component or may be vascular in nature, considering their response to anti-VEGF treatment, while other ORTs are likely composed only of degenerating photoreceptor cells and may collapse independently from anti-VEGF treatments.

REPRODUCIBILITY OF MACULAR PIGMENT OPTICAL DENSITY MEASUREMENT BY TWO-WAVELENGTH AUTOFLUORESCENCE IN A CLINICAL SETTING.

PURPOSE: Macular pigment, composed of lutein, zeaxanthin, and meso-zeaxanthin, is postulated to protect against age-related macular degeneration, likely because of filtering blue light and its antioxidant properties. Macular pigment optical density (MPOD) is reported to be associated with macular function evaluated by visual acuity and multifocal electroretinogram. Given the importance of macular pigment, reliable and accurate measurement methods are important. The main purpose of this study is to determine the reproducibility of MPOD measurement by two-wavelength autofluorescence method using scanning laser ophthalmoscopy. METHODS: Sixty-eight eyes of 39 persons were enrolled in the study, including 11 normal eyes, 16 eyes with wet age-related macular degeneration, 16 eyes with dry age-related macular degeneration, 11 eyes with macular edema due to diabetic mellitus, branch retinal vein occlusion or macular telangiectasia, and 14 eyes with tractional maculopathy, including vitreomacular traction, epiretinal membrane, or macular hole. MPOD was measured with a two-wavelength (488 and 514 nm) autofluorescence method with the Spectralis HRA + OCT after pupil dilation. The measurement was repeated for each eye 10 minutes later. The analysis of variance and Bland-Altman plot were used to assess the reproducibility between the two measurements. RESULTS: The mean MPOD at eccentricities of 1° and 2° was 0.36 ± 0.17 (range: 0.04-0.69) and 0.15 ± 0.08 (range: -0.03 to 0.35) for the first measurement and 0.35 ± 0.17 (range: 0.02-0.68) and 0.15 ± 0.08 (range: -0.01 to 0.33) for the second measurement, respectively. The difference between the 2 measurements was not statistically significant, and the Bland-Altman plot showed 7.4% and 5.9% points outside the 95% limits of agreement, indicating an overall excellent reproducibility. Similarly, there is no significant difference between the first and second measurements of MPOD volume within eccentricities of 1°, 2°, and 6° radius, and the Bland-Altman plot showed 8.8%, 2.9%, and 4.4% points outside the 95% limits of agreement, respectively. The data for the reproducibility did not differ significantly among the various disease and normal eyes. CONCLUSION: Under routine examination conditions with pupil dilation, MPOD measurement by two-wavelength autofluorescence method showed a high reproducibility.

Significance of the hyperautofluorescent ring associated with choroidal neovascularisation in eyes undergoing anti-VEGF therapy for wet age-related macular degeneration.

AIM: To characterise the presence of a hyperautofluorescent (HAF) ring associated with choroidal neovascularisation (CNV) complex in patients with wet age-related macular degeneration (AMD). METHODS: Fundus autofluorescence images and spectral-domain optical coherence tomography (OCT) scans from 362 eyes with wet AMD were reviewed. The presence and size of an HAF ring associated with the CNV complex was evaluated. A subgroup of 64 treatment-naive eyes with new-onset CNV was studied to analyse the relationship between pretreatment OCT characteristics and the presence of the HAF ring. RESULTS: An HAF ring was present in 38% of the entire cohort of eyes and in 39% of treatment-naive eyes. The presence of the HAF ring was significantly correlated with the extent of baseline subretinal fluid (SRF) on OCT (p=0.0113), the number of antivascular endothelial growth factor (VEGF) injections (p=0.0439) and the number of treatment cycles (p=0.0154). Eyes with an HAF ring were more likely to have disruption of the ellipsoid zone line once the SRF was resolved compared with eyes without an HAF ring (p=0.0002). In multivariate analysis, the best predictors for HAF ring were the baseline area of SRF (p=0.0449) and the number of anti-VEGF treatments received (p=0.0568). CONCLUSIONS: Nearly 40% of wet AMD eyes had an HAF ring. In treatment-naive eyes, the HAF ring had a significant association with SRF and was found as early as the baseline measurement and as long as 18 months after beginning treatment, persisting for up to 6 years after the initial diagnosis. Its association with baseline SRF and disruption of the ellipsoid zone line of the photoreceptors on OCT could indicate continuous stress on the outer retinal structures after exposure to prolonged SRF and/or transmitted autofluorescence from loss of the photoreceptors overlying the retinal pigment epithelium.

Bradyrhizobium neotropicale sp. nov., isolated from effective nodules of Centrolobium paraense.

Root nodule bacteria were isolated from Centrolobium paraense Tul. grown in soils from the Amazon region, State of Roraima (Brazil). 16S rRNA gene sequence analysis of seven strains (BR 10247(T), BR 10296, BR 10297, BR 10298, BR 10299, BR 10300 and BR 10301) placed them in the genus Bradyrhizobium with the closest neighbours being the type strains of Bradyrhizobium paxllaeri (98.8 % similarity), Bradyrhizobium icense (98.8 %), Bradyrhizobium lablabi (98.7 %), Bradyrhizobium jicamae (98.6 %), Bradyrhizobium elkanii (98.6 %), Bradyrhizobium pachyrhizi (98.6 %) and Bradyrhizobium retamae (98.3 %). This high similarity, however, was not confirmed by the intergenic transcribed spacer (ITS) 16S-23S rRNA region sequence analysis nor by multi-locus sequence analysis. Phylogenetic analyses of five housekeeping genes (dnaK, glnII, gyrB, recA and rpoB) revealed Bradyrhizobium iriomotense EK05(T) ( = LMG 24129(T)) to be the most closely related type strain (95.7 % sequence similarity or less). Chemotaxonomic data, including fatty acid profiles [major components being C16 : 0 and summed feature 8 (18 : 1ω6c/18 : 1ω7c)], DNA G+C content, slow growth rate and carbon compound utilization patterns, supported the placement of the novel strains in the genus Bradyrhizobium. Results of DNA-DNA relatedness studies and physiological data (especially carbon source utilization) differentiated the strains from the closest recognized species of the genus Bradyrhizobium. Symbiosis-related genes for nodulation (nodC) and nitrogen fixation (nifH) placed the novel species in a new branch within the genus Bradyrhizobium. Based on the current data, these seven strains represent a novel species for which the name Bradyrhizobium neotropicale sp. nov. is proposed. The type strain is BR 10247(T) ( = HAMBI 3599(T)).

Recomendaciones para la cesación de la adicción al tabaco en Colombia / Recommendations for smoking cessation in Colombia

Introducción. El tabaquismo es el principal factor de riesgo para enfermedades crónicas que constituyen la mayor carga en Colombia. Objetivos. Generar recomendaciones de práctica clínica sobre eficacia y seguridad del tratamiento para la cesación de la adicción al tabaco en adultos colombianos. Materiales y métodos. Se hizo una adaptación basada en la metodología ADAPTE. Se buscaron guías de práctica clínica en Medline, EMBASE, CINAHL, LILACS y Cochrane. Se evaluó la cesación a seis meses para consejería breve e intensiva, terapia de reemplazo nicotínico, bupropión, vareniclina, clonidina, nortriptilina, acupuntura, hipnosis, homeopatía y la combinación de tratamientos. Se utilizó el German Instrument for Methodological Guideline Appraisal (DELBI) para evaluar las guías de prácticalínica. Se seleccionaron las guías con puntaje mayor de 60 % en rigor metodológico y aplicabilidad en Colombia. Las preguntas sin evidencia fuerte se llevaron a consenso. Resultados. Se encontraron 925 referencias, se preseleccionaron 17 guías de práctica clínica y se escogieron 5 para adaptación. La consejería breve e intensiva, la terapia de reemplazo nicotínico, el bupropión, la nortriptilina y la vareniclina son eficaces en la cesación de tabaquismo (incrementó 5,1 % a 22,7 %). Los tratamientos alternativos no tienen eficacia demostrada en la cesación. El uso simultáneo de diferentes formas de terapia de reemplazo nicotínico es la única combinación con eficacia demostrada (OR 1,9; 95%: 1,3-2,7). Conclusiones. Existen diversas alternativas con eficacia demostrada para dejar de fumar. Los incrementos en las tasas de cesación son variables y la duración del efecto necesita mayor seguimiento. Para aplicar la consejería breve e intensiva en Colombia, se deben usar formatos estándar. Se requieren evaluaciones económicas para valorar el impacto y seleccionar las mejores intervenciones en el contexto colombiano.

Introduction: Chronic diseases represent the greatest burden of disease in Colombia for which smoking is the major risk factor. Objectives: To provide clinical practice recommendations based upon efficacy and safety of smoking cessation therapies for Colombian adults. Materials and methods: An adaptation of clinical practice guidelines (CPG) based on the ADAPT methodology was performed. We searched CPG on Medline, EMBASE, CINAHL, LILACS, and Cochrane databases. Six months’ cessation rates were appraised for brief and intensive counseling, nicotine replacement therapy (NRT), bupropion, varenicline, clonidine, nortriptyline, acupuncture, hypnosis, homeopathy, and combined treatments. CPG were evaluated with DELBI and selected when having a score above 60% for methodological rigor of development and applicability to the Colombian health system. Formal consensus was performed for questions without strong evidence. Results: 925 references were found, 17 CPG were pre-selected and 5 selected for adaptation. Brief and intensive counseling, NRT, bupropion, nortriptyline, and varenicline are effective for smoking cessation (cessation rates augment 5.1%-22.7%). Alternative therapies have not demonstrated cessation efficacy. Concomitant use of different NRT is the only combination with demonstrated efficacy (OR 1.9, 95%CI 1.3-2.7). Conclusions: Several alternatives for giving up tobacco smoking have confirmed efficacy. The absolute difference in cessation rates is variable among therapies and duration of effect requires further research. Brief and intensive counseling necessitate standardized formats for their implementation in Colombia. Economic evaluations are required to assess costs and benefits and to select the most suitable interventions for Colombia.

[Recommendations for smoking cessation in Colombia]. / Recomendaciones para la cesación de la adicción al tabaco en Colombia.

INTRODUCTION: Chronic diseases represent the greatest burden of disease in Colombia for which smoking is the major risk factor. OBJECTIVES: To provide clinical practice recommendations based upon efficacy and safety of smoking cessation therapies for Colombian adults. MATERIALS AND METHODS: An adaptation of clinical practice guidelines (CPG) based on the ADAPT methodology was performed. We searched CPG on Medline, EMBASE, CINAHL, LILACS, and Cochrane databases. Six months' cessation rates were appraised for brief and intensive counseling, nicotine replacement therapy (NRT), bupropion, varenicline, clonidine, nortriptyline, acupuncture, hypnosis, homeopathy, and combined treatments. CPG were evaluated with DELBI and selected when having a score above 60% for methodological rigor of development and applicability to the Colombian health system. Formal consensus was performed for questions without strong evidence. RESULTS: 925 references were found, 17 CPG were pre-selected and 5 selected for adaptation. Brief and intensive counseling, NRT, bupropion, nortriptyline, and varenicline are effective for smoking cessation (cessation rates augment 5.1%-22.7%). Alternative therapies have not demonstrated cessation efficacy. Concomitant use of different NRT is the only combination with demonstrated efficacy (OR 1.9, 95%CI 1.3-2.7). CONCLUSIONS: Several alternatives for giving up tobacco smoking have confirmed efficacy. The absolute difference in cessation rates is variable among therapies and duration of effect requires further research. Brief and intensive counseling necessitate standardized formats for their implementation in Colombia. Economic evaluations are required to assess costs and benefits and to select the most suitable interventions for Colombia.

Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling.

Fibroblast growth factor receptor 2 (FGFR2) is a crucial regulator of bone formation during embryonic development. Both gain and loss-of-function studies in mice have shown that FGFR2 maintains a critical balance between the proliferation and differentiation of osteoprogenitor cells. We have identified de novo FGFR2 mutations in a sporadically occurring perinatal lethal skeletal dysplasia characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones. Histological analysis of the long bones revealed that the growth plate contained smaller hypertrophic chondrocytes and a thickened hypercellular periosteum. Four unrelated affected individuals were found to be heterozygous for missense mutations that introduce a polar amino acid into the hydrophobic transmembrane domain of FGFR2. Using diseased chondrocytes and a cell-based assay, we determined that these mutations selectively reduced plasma-membrane levels of FGFR2 and markedly diminished the receptor's responsiveness to extracellular FGF. All together, these clinical and molecular findings are separate from previously characterized FGFR2 disorders and represent a distinct skeletal dysplasia.

Adult-onset presentation of a hyperornithinemia-hyperammonemia-homocitrullinuria patient without prior history of neurological complications.

The Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome is a disorder of the urea cycle and ornithine degradation pathway caused by mutations in the mitochondrial ornithine transporter, ORNT1 (SLC25A15). In general, the majority of patients with HHH syndrome come to medical attention during infancy or early school years with symptoms such as learning disabilities, changes in cognitive development, spasticity, or liver dysfunction. In this report, we describe a 35-year-old male of Indian descent who was diagnosed with HHH syndrome after he presented to the emergency room with gastroenteritis, disorientation, and slurred speech. Molecular analysis revealed that this patient was heterozygous for two ORNT1 mutations, p.[Gly220Arg(+)Arg275X] (c.[658G>A(+)823C>T]) that had been previously reported in homozygous probands who presented during the first year of life. Cellular studies revealed that the ORNT1 p.Gly220Arg mutation was nonfunctional but targeted to the mitochondria. Given that this patient was a successful college graduate on a vegetarian diet without a prior history of learning or neurological impairment, additional factors such as gene redundancy, environmental, and epigenetic factors may have contributed to the delay in onset of presentation and lack of any previous symptoms. To the best of our knowledge, this is the first reported case of an adult-onset HHH syndrome presentation without a prior history of neurological or cognitive deficiency.