SYMPTOMATIC AND ASYMPTOMATIC SMOKERS WITHOUT AIRFLOW OBSTRUCTION: A NEW CLINICAL ENTITY?

Non-obstructed ever-smokers, with or without symptoms, have generated a great deal of information recently, but few reviews. Even individuals with normal spirometry can present changes in sputum with inflammatory biomarkers (cellular and molecular) and airways and parenchyma with remodeling; when symptomatic (cough, sputum, wheezing, and dyspnea) exacerbations are frequent affecting the individuals' quality of life, there is an increased use of health resources: more medication, emergency visits, and hospital admissions. Non-obstructed smokers may have exercise limitations, increased lung volumes, low diffusion capacity, air entrapment, peripheral airways obstruction, elevated airways resistance, and abnormal multiple breath nitrogen washout, as well as abnormalities in computed tomography studies, such as airway wall thickening, emphysema, or interstitial lung abnormalities. Quitting smoking comprises a first, inexpensive, and often abandoned intervention to arrest respiratory impairment. It is controversial whether or not this population should be treated with other medications. Further studies should be conducted to elucidate the consequences of follow-up and prognosis in this clinical entity.

Varenicline for long term smoking cessation in patients with COPD.

BACKGROUND: Quitting smoking is key for patients with Chronic Obstructive Pulmonary Disease (COPD). Standard recommendations for quitting smoking are implemented for COPD as well. Varenicline Tartrate (VT) is the most effective drug to help quit smoking, but few studies have analysed its effectiveness. AIM OF THE STUDY: To determine the Abstinence Rate (AR) at 12 months, in COPD and non-COPD smokers. METHODS: Observational study in 31 COPD (post bronchodilator-BD FEV1/FVC <0.70) and in 63 non-COPD smokers, were invited to receive treatment with Varenicline Tartrate (VT). Fourteen subjects with COPD and 46 non-COPD subjects received additionally Cognitive-Behavioral Therapy (CBT). Abstinence rate (AR) was validated by exhaled carbon monoxide CO (COe), in addition to a phone or face-to-face interview. Motivation score was measured with a visual analogue scale (MS). RESULTS: Differences between COPD and non-COPD, mean FEV1/FVC ratio 0.52 ±â€¯0.10 vs. 0.90 ±â€¯0.15, age 60 ±â€¯10 vs. 47 ±â€¯10 years, smoking pack-years 37 ±â€¯3.5 vs. 22 ±â€¯12, and COe 16 ±â€¯11 vs. 12 ±â€¯9 ppm were statistically significant (p < 0.05); for MS the score was 93 ±â€¯11 vs. 93 ±â€¯11 and for attempts to quit (AQ) 2 ±â€¯2 vs. 2 ±â€¯3 were not. AR was not significantly different at 12 months (61.2 vs. 42.8% p = 0.072). Motivation was the only significant one-year AR predictor. CONCLUSIONS: COPD smokers had a similar response (higher tendency) to VT regardless of the presence of airflow obstruction and stronger nicotine addiction.

Population Structure of Riverine and Coastal Dolphins Sotalia fluviatilis and Sotalia guianensis: Patterns of Nuclear and Mitochondrial Diversity and Implications for Conservation.

Coastal and freshwater cetaceans are particularly vulnerable due to their proximity to human activity, localized distributions, and small home ranges. These species include Sotalia guianensis, found in the Atlantic and Caribbean coastal areas of central and South America, and Sotalia fluviatilis, distributed in the Amazon River and tributaries. We investigated the population structure and genetic diversity of these 2 species by analyses of mtDNA control region and 8-10 microsatellite loci. MtDNA analyses revealed strong regional structuring for S. guianensis (i.e., Colombian Caribbean vs. Brazilian Coast, FST = 0.807, ΦST = 0.878, P < 0.001) especially north and south of the Amazon River mouth. For S. fluviatilis, population structuring was detected between the western and eastern Amazon (i.e., Colombian Amazon vs. Brazilian Amazon, FST = 0.085, ΦST = 0.277, P < 0.001). Haplotype and nucleotide diversity were higher for S. fluviatilis. Population differentiation was supported by analysis of the microsatellite loci (S. guianensis, northern South America vs. southern South America FST = 0.275, Jost's D = 0.476, P < 0.001; S. fluviatilis, western and eastern Amazon FST = 0.197, Jost's D = 0.364, P < 0.001). Most estimated migration rates in both species overlapped with zero, suggesting no measurable migration between most of the sampling locations. However, for S. guianensis, there was measurable migration in neighboring sampling locations. These results indicate that the small home ranges of these species may act to restrict gene flow between populations separated by relatively short distances, increasing the risk of extirpation of some localized populations in the future if existing threats are not minimized.

Redness response phenotypes of allergic conjunctivitis in an allergen challenge chamber.

BACKGROUND: There are few direct data concerning symptom dynamics of allergic conjunctivitis (AC) in an allergen challenge chamber (ACC). OBJECTIVE: To determine the AC dynamics on subsequent exposures to ragweed pollen (RW) in individuals with allergic rhinitis in an ACC. To determine whether consecutive exposures in an ACC have any persistent detrimental ocular physical effects. METHODS: Participants underwent 3 exposures to RW in an ACC. Ocular symptoms of itching and tearing were self-assessed. Ocular redness and lid swelling were assessed by trained ophthalmic technicians. Complete ophthalmic examinations (COEs) were performed by an ophthalmologist. RESULTS: A total of 188 of 201 participants (93%) developed an ocular redness score of 2 or more in each eye in ACC exposure 1. Reproducibility of redness occurred in approximately 70% of individuals completing ACC exposures 1 through 3. There were no significant changes between baseline COE and end of study COE. Phenotypes were identified by redness responses during and after exposure. Baseline total ocular symptom scores, at 24 hours after a priming exposure, were identified as late-phase reactions rather than enhanced sensitivity. CONCLUSION: When assessed by trained professionals, AC was present with a very high frequency in selected individuals allergic to RW monitored in an ACC. Intrasubject reproducibility of redness was consistent across 3 ACC allergen exposures. Phenotypes were identified as early-phase responses, protracted early-phase responses, dual responses, and late-phase responses. TRIAL REGISTRATION: clinicaltrials.gov Identifier: NCT02079649.

Genetic Variants in IL6R and ADAM19 are Associated with COPD Severity in a Mexican Mestizo Population.

Chronic obstructive pulmonary disease (COPD) is a complex and multifactorial disease with a strong genetic component. Our objective is to identify the genetic variants associated with COPD risk and its severity in Mexican Mestizo population. We evaluated 1285 single-nucleotide polymorphisms (SNPs) of candidate genes in 299 smokers with COPD (COPD-S) and 531 smokers without COPD (SWOC) using an Illumina GoldenGate genotyping microarray. In addition, 251 ancestry informative markers were included. Allele A of rs2545771 in CYP2F2P is associated with a lower risk of COPD (p = 4.02E-10, odds ratio [OR] = 0.104, confidence interval [CI] 95% 0.05-0.18). When the COPD group was stratified by severity according to the Global Initiative for Chronic Obstructive Lung Disease (GOLD; levels III + IV vs. I + II), 3 SNPs (rs4329505 and rs4845626 in interleukin 6 receptor [IL6R] and rs1422794 in a disintegrin and metalloproteinase domain 19 [ADAM19]) were associated with a lower risk of suffering the most severe stages of the disease. rs2819096 in the surfactant protein D (SFTPD) gene was associated with a higher risk of COPD GOLD III + IV (p = 7.79E-03, OR = 1.80, CI 95% 1.16-2.79). Finally, the haplotype in IL6R was associated with a lower risk of suffering from more severe COPD, whereas the haplotype in ADAM19 was associated with a higher risk (p = 7.40E-03, OR = 2.83, CI 95% 1.20-6.86) of suffering from the severe stages of the disease. Our data suggest that there are alleles and haplotypes in the IL6R, ADAM19, and SFTPD genes associated with different severity stages of COPD; in CYP2F2P, rs25455771 is associated with a lower risk of COPD.

Behavioral responses of three armadillo species (Mammalia: Xenarthra) to an environmental enrichment program in Villavicencio, Colombia.

Enrichment is a powerful tool to improve the welfare of animals under human care. Stress-related health and behavioral problems, as well as reproductive failure, are frequent in armadillos (Xenarthra, Cingulata, Dasypodidae) under human care, which hinders the development of successful ex situ conservation programs. Nevertheless, scientific studies on the effect of enrichment programs on armadillos are virtually non-existent. The objective of this study was to assess the impact of an enrichment program on the behavior of armadillos under human care. The behavior of 12 individuals of three species (Dasypus novemcinctus, D. sabanicola, and Cabassous unicinctus) maintained at Finca El Turpial, Villavicencio, Colombia, was recorded using scan sampling during three daily time blocks of 2 hr each before (4 weeks) and after (4 weeks) implementing an enrichment program. Enrichment did not stimulate the armadillos to change or extend their activity period. In general, activity levels were low during the entire study, and virtually no activity was recorded in the morning in any species, neither without nor with enrichment. The latter did, however, improve welfare by reducing abnormal and increasing natural foraging behaviors. All species were attracted by artificial termite mounds. Dasypus spp. showed special interest in cardboard boxes with food, while Cabassous was mainly attracted to hollow plastic balls filled with food. Our results suggest that separate enrichment programs need to be developed for different armadillo species, and that they should be applied during the time of day at which they are most active. Zoo Biol. 35:304-312, 2016. © 2016 Wiley Periodicals, Inc.

Population Structure and Genetic Diversity of the Endangered South American Giant Otter (Pteronura brasiliensis) from the Orinoco Basin in Colombia: Management Implications and Application to Current Conservation Programs.

Endangered giant otters, Pteronura brasiliensis, are found along the Amazon and Orinoco rivers and most of their tributaries. Hunting in the mid-1970s pushed giant otter populations to the brink of extinction. We studied population structure and genetic diversity of giant otters from Colombia's Orinoco basin using analyses of partial mitochondrial DNA control region sequences obtained from scat material. We collected and analyzed 54 scat samples from 22 latrines, 2 tissue samples primarily from captive giant otters and 2 from hunted animals near Puerto Carreño and Puerto Inírida (Colombian Orinoco), as well as one tissue sample from Puerto Leguizamo (Colombian Amazon). Thirty-nine partial control region sequences were obtained (258bp), corresponding to 15 unique haplotypes. Most of these haplotypes, found in samples collected around Puerto Carreño, defined one phylogeographic group (phylogroup) not previously described. Higher genetic diversity in the Colombian Orinoco populations than in other South American populations suggests that this newly described phylogroup, as well as a second phylogroup defined from a few Colombian Orinoco and Amazon samples, should be considered distinct genetic management units. National conservation programs, particularly those aiming to establish protected areas, should manage these independently. Current Colombian confiscated animal reintroduction and captive reproduction programs should also consider such differentiation when determining reintroduction locations or improving husbandry practices.

FEV1 decline in patients with chronic obstructive pulmonary disease associated with biomass exposure.

RATIONALE: Biomass exposure is an important risk factor for chronic obstructive pulmonary disease (COPD). However, the time-course behavior of FEV1 in subjects exposed to biomass is unknown. OBJECTIVES: We undertook this study to determine the FEV1 rate decline in subjects exposed to biomass. METHODS: Pulmonary function was assessed every year in a Mexican cohort of patients with COPD associated with biomass or tobacco during a 15-year follow-up period. MEASUREMENTS AND MAIN RESULTS: The mean rate of decline was significantly lower for the biomass exposure COPD group (BE-COPD) than for the tobacco smoke COPD group (TS-COPD) (23 vs. 42 ml, respectively; P < 0.01). Of the TS-COPD group, 11% were rapid decliners, whereas only one rapid decliner was found in the BE-COPD group; 69 and 21% of smokers versus 17 and 83% of the BE-COPD group were slow decliners and sustainers, respectively. A higher FEV1 both as % predicted and milliliters was a predictive factor for decline for BE-COPD and TS-COPD, whereas reversibility to bronchodilator was a predictive factor for both groups when adjusted by FEV1% predicted and only for the TS-COPD group when adjusted by milliliters. CONCLUSIONS: In the biomass exposure COPD group the rate of FEV1 decline is slower and shows a more homogeneous rate of decline over time in comparison with smokers. The rapid rate of FEV1 decline is a rare feature of biomass-induced airflow limitation.

Clinical and microbiological characteristics and inflammatory profile during an exacerbation of COPD due to biomass exposure. A comparison with COPD due to tobacco exposure.

BACKGROUND: Patients with biomass exposure-related COPD (BE-COPD) is a prevalent disease in developing countries and requires a detailed study of its clinical and inflammatory characteristics, specifying interventions that may differ from tobacco exposure-related COPD (TE-COPD). The objective was to describe clinical characteristics, biomarkers of inflammation, T-helper cells, and microbiological agents during a COPD exacerbation in BE-COPD in comparison with TE-COPD. METHODS: A prospective observational study in patients with moderate or severe exacerbation was recruited either in the emergency room or the COPD clinic. At enrollment, nasopharyngeal swabs and sputum were collected to identify viral and bacterial pathogens. Blood samples were also collected to measure inflammatory biomarkers and T-helper cells levels. Days of hospitalization and mechanical ventilation requirement was evaluated. RESULTS: Clinical characteristics, vaccination history, hospitalization, history of exacerbations, and microbiological pattern between BE-COPD and TE-COPD were similar. The Th2 profile was higher in BE-COPD than in TE-COPD (2.10 [range 1.30-3.30] vs. 1.40 [range 1.20-1.80], p = 0.001). The Th2/Th1 ratio was higher in BE-COPD than TE-COPD (1.22 [range 0.58-2.57 ] vs. 0.71 [range 0.40-1.15], p = 0.004). The need of mechanical ventilation (MV) was higher in TE-COPD than BE-COPD (13% vs. 31.1%, p = 0.01). Nonvaccination history and high CRP levels were significantly associated with hospitalization [OR 1.48 (CI 95% 1.30-4.61, p = 0.005) and OR 1.17 (CI 95% 1.10-1.24, p = 0.001), respectively]. CONCLUSIONS: Clinical characteristics, inflammatory markers, and microbiological isolates were similar in both groups but BE-COPD show a tendency to present higher inflammatory Th2 cells and low requirement MV compared with TE-COPD.

Genetic Factors Associated with COPD Depend on the Ancestral Caucasian/Amerindian Component in the Mexican Population.

Genetic variability influences the susceptibility to and severity of complex diseases; there is a lower risk of COPD in Hispanics than in non-Hispanic Caucasians. In this study, we included 830 Mexican-Mestizo subjects; 299 were patients with COPD secondary to tobacco smoking, and 531 were smokers without COPD. We employed a customized genotyping array of single nucleotide polymorphisms (SNPs). The population structure was evaluated by principal component analysis and allele association through a logistic regression model and haplotype identification. In this study, 118 individuals were identified with a high Caucasian component and 712 with a high Amerindian component. Independent of the ancestral contribution, two SNPs were associated with a reduced risk (p ≤ 0.01) of developing COPD in the CYP2A6 (rs4105144) and CYP2B6 (rs10426235) genes; however, a haplotype was associated with an increased risk of COPD (p = 0.007, OR = 2.47) in the CHRNA5-CHRNA3 loci among smokers with a high Caucasian component. In Mexican-Mestizo smokers, there are SNPs in genes that encode proteins responsible for the metabolism of nicotine associated with a lower risk of COPD; individuals with a high Caucasian component harboring a haplotype in the CHRNA5-CHRNA3 loci have a higher risk of suffering from COPD.

Human T-cell Lymphotropic Virus Type I Associated with Amyotrophic Lateral Sclerosis Syndrome: Immunopathological Aspects and Treatment Options.

Human T-cell lymphotropic virus type I (HTLV-I) is a retrovirus related to infectious myelopathies, neoplasms, lymphomas, leukemias, and amyotrophic lateral sclerosis (ALS). It is acquired through sexual transmission, transfusion of blood products, and breastfeeding. The increased expression of human endogenous retrovirus K (HERV-K) in the brain tissue of patients with ALS has been demonstrated, a finding that supports the relationship between the virus and this disease. Therapeutic options include supportive measures and symptomatic treatment with anti-inflammatory medications including steroids, cyclosporines, pentoxifylline, danazol, interferons, and vitamin C. New management proposals are being implemented with valproic acid that acts to facilitate the recognition of the virus by the immune system and with zidovudine antivirals focused on reducing viral load. The purpose of this paper is to describe a clinical case that exhibits clinical signs and evidence of motor neuron compromise as described in electrophysiology studies along with positive laboratory tests for the HTLV-I virus.

On the brink of isolation: Population estimates of the Araguaian river dolphin in a human-impacted region in Brazil.

Populations of freshwater dolphins are declining in response to increased human pressure, including habitat degradation, overfishing, bycatch, poaching and obstruction of free-flowing river corridors by dams. At least three river dolphin species occur in South America: the Amazonian river dolphin, or boto (Inia geoffrensis), the Bolivian river dolphin (Inia boliviensis) and the tucuxi (Sotalia fluviatilis). A fourth species, the Araguaian boto (Inia araguaiaensis), been proposed for the Tocantins-Araguaia, a large river basin in northern Brazil. Here we show that the Araguaian boto population in the Tocantins River is relatively small (N = 1083, CV = 0.52). During a survey to estimate density and abundance, 138 groups (198 individuals) of botos were observed along a ~600 km stretch of the Tocantins River in five different habitats (river margin, river channel, channel, island margin, and a dam reservoir). Overall, lower densities of the Araguaian boto were registered downstream of the Tucuruí dam, the world's fifth largest hydropower dam. Density was 68% lower in the river margin habitat downstream (0.23 ind./km2, CV = 0.92) than upstream (0.72 ind./km2, CV = 0.53). In addition, density within the Tucuruí reservoir decreases from upstream areas towards the dam. Geographic post-stratification of data into sub-regions (downstream, reservoir, upstream) in relation to the Tucuruí dam helped to reduce CV by ~70%, which illustrates the high variability in the encounter rate in these areas. Our findings suggest that the Araguaian boto population has been impacted by the construction of the Tucuruí dam. The construction of other dams proposed for the Tocantins-Araguaia basin should be planned strategically to minimize overlapping with the Araguaian boto distribution. Coordinated conservation actions are imperative to prevent the Araguaian boto from reaching extinction or near-extinction as some of their Asian counterparts such as the Yangtze, Ganges, and Indus river dolphins.

Genetic variants in IL17A and serum levels of IL-17A are associated with COPD related to tobacco smoking and biomass burning.

IL-17A is an important pro-inflammatory cytokine involved in the inflammatory response in chronic obstructive pulmonary disease (COPD). To evaluate the role played by single nucleotide polymorphisms of IL17A and protein levels in susceptibility to COPD, 1,807 subjects were included in a case-control study; 436 had COPD related to tobacco smoking (COPD-S) and 190 had COPD related to biomass burning (COPD-BB). Six hundred fifty-seven smokers without COPD (SWOC) and 183 biomass burning-exposed subjects (BBES) served as the respective control groups. The CC genotype and C allele of rs8193036 were associated with COPD (COPD-S vs. SWOC: p < 0.05; OR = 3.01, and OR = 1.28, respectively), as well as a recessive model (p < 0.01; OR = 2.91). Significant differences in serum levels were identified between COPD-S vs. SWOC, COPD-S vs. COPD-BB, and SWOC vs. BBES (p < 0.01). By comparing genotypes in the COPD-BB group TT vs. CC and TC vs. CC (p < 0.05), we found lower levels for the CC genotype. Logistic regression analysis by co-variables was performed, keeping the associations between COPD-S vs. SWOC with both polymorphisms evaluated (p < 0.05), as well as in COPD-BB vs. BBES but with a reduced risk of exacerbation (p < 0.05). In conclusion, polymorphisms in IL17A are associated with COPD. Serum levels of IL-17A were higher in smokers with and without COPD.

Bronchodilators for hyperinflation in COPD associated with biomass smoke: clinical trial.

Introduction: The efficacy of long-acting bronchodilators for COPD associated with biomass (BE-COPD) has not been properly evaluated. Objective: To determine the acute effect of indacaterol (IND) 150 µg q.d and tiotropium (TIO) 18 µg q.d. on lung hyperinflation, walking distance (WD) and dyspnea during the six-minute walking test (6MWT) in moderate BE-COPD at 30, 60 and 240 mins post-drug administration. Design: Randomized, controlled, open-level, crossover noninferiority clinical trial. Forty-two women with BE-COPD were randomly assigned to a bronchodilator sequence: IND-TIO or vice versa. Results: There were statistically significant changes over time in inspiratory capacity (IC) (p<0.0001), FEV1 (p<0.0001) and FVC (p<0.0001) when IND was used. When TIO was administered, an increase over all time periods was observed only for FEV1 (p<0.0001) and FVC (p<0.0001), whereas for IC an increase was observed only at 30 mins and 24 hrs after TIO administration. We did not find clinically significant increases in WD and dyspnea after the administration of both bronchodilators. Conclusion: Both IND and TIO showed significant and fast onset improvement in hyperinflation. Therefore, either of them may be recommended as a first line of treatment for COPD associated with BE-COPD.

TNF promoter polymorphisms are associated with genetic susceptibility in COPD secondary to tobacco smoking and biomass burning.

Background: Smoking and smoke from biomass burning (BB) are the main environmental risk factors for COPD. Clinical differences have been described between COPD related to smoking and related to wood smoke, but no studies have shown genetic differences between patients exposed to these two risk factors. Methods: To investigate a possible association of tumor necrosis factor (TNF) promoter polymorphisms, we conducted a case-control study. A total of 1,322 subjects were included in four groups: patients with a diagnosis of COPD secondary to smoking (COPD-S, n=384), patients with COPD secondary to biomass burning (COPD-BB, n=168), smokers without COPD (SWOC, n=674), and biomass burning-exposed subjects (BBES n=96). Additionally, a group of 950 Mexican mestizos (MMs) was included as a population control. Three single nucleotide polymorphisms (SNPs) were selected in the TNF gene (rs1800629, rs361525, and rs1800750) and one SNP in the lymphotoxin alpha gene (rs909253). Results: Statistically significant differences were found with genotype GA of the rs1800629: COPD-S vs SWOC, (p<0.001, odds ratio [OR] =2.55, 95% CI=1.53-4.27); COPD-S vs COPD-BB (p,0.01). When performing the comparison of the less severe (G1: I + II) and the more severe (G2: III + IV) levels, differences were identified in G1 (p<0.05, OR=1.94, 95% CI=1.04-3.63) and G2 (p<0.001, OR=3.68, 95% CI=1.94-3.07) compared with SWOC. Regarding genotype GA of rs361525, it has been associated when comparing COPD-BB vs BBES (p=0.0079, OR=5.99, 95% CI=1.38-53.98). Conclusion: The heterozygous genotype GA of polymorphisms rs1800629 and rs361525 in the TNF promoter are associated with the risk of COPD.

Range extension for the common dolphin (Delphinus sp.) to the Colombian Caribbean, with taxonomic implications from genetic barcoding and phylogenetic analyses.

The nearest known population of common dolphins (Delphinus sp.) to the Colombian Caribbean occurs in a fairly restricted range in eastern Venezuela. These dolphins have not been previously reported in the Colombian Caribbean, likely because of a lack of study of the local cetacean fauna. We collected cetacean observations in waters of the Guajira Department, northern Colombia (~11°N, 73°W) during two separate efforts: (a) a seismic vessel survey (December 2009-March 2010), and (b) three coastal surveys from small boats (May-July 2012, May 2013, and May 2014). Here we document ten sightings of common dolphins collected during these surveys, which extend the known range of the species by ~1000 km into the southwestern Caribbean. We also collected nine skin biopsies in 2013 and 2014. In order to determine the taxonomic identity of the specimens, we conducted genetic barcoding and phylogenetic analyses using two mitochondrial markers, the Control Region (mtDNA) and Cytochrome b (Cytb). Results indicate that these specimens are genetically closer to the short-beaked common dolphin (Delphinus delphis) even though morphologically they resemble a long-beaked form (Delphinus sp.). However, the specific taxonomic status of common dolphins in the Caribbean and in the Western Atlantic remains unresolved. It is also unclear whether the distribution of the species between northern Colombia and eastern Venezuela is continuous or disjoined, or whether they can be considered part of the same stock.

Síndrome de persona rígida, presentación de un caso clínico y actualidad en el tratamiento / Stiff person syndrome, presentation of a clinical case and an update on the treatment

RESUMEN El síndrome de persona rígida afecta el sistema nervioso central. Los signos clínicos relevantes son la rigidez, los espasmos musculares y sensibilidad incrementada a los estímulos externos, que inducen las contracciones musculares. Las mujeres son afectadas de 2 a 3 veces más con relación a los hombres. Hay marcadores de tipo clínico y electrofisiológico característicos. La etiología se asocia con la mediación por anticuerpos y puede ser la expresión de un síndrome paraneoplásico. El tratamiento farmacológico se realiza con medicamentos relajantes musculares y medicamentos con mecanismo inmunomodulador o inmunosupresor. Adicionalmente, se requiere un plan complementario de rehabilitación. El propósito del grupo es hacer una descripción del caso clínico, que consideramos es relevante por su baja frecuencia de presentación y realizar una actualización sobre el tema.

A B S T R A C T Stiff person syndrome affects the central nervous system. Relevant clinical signs are stiffness, muscle spasms, increased sensitivity with external stimuli that increase muscle contractions. Women are affected twice to three times more, in comparation with the men. There are characteristic clinical and electrophysiological type markers. The etiology is associated with mediation by antibodies and may be the expression of a paraneoplastic syndrome. Pharmacological treatment is focused on muscle relaxant-type medications, drugs with immunomodulatory or immunosuppressive mechanism. In adition, complementary rehabilitation treatment is required. The purpose of the group is to make the description of the clinical case that is relevant due to the low frequency of presentation and to carry out an update of the topic.

Prevalence of alpha-1 antitrypsin high-risk variants in Mexican mestizo population and their association with lung function values.

INTRODUCTION: Chronic obstructive pulmonary disease (COPD) is characterized by restricted airflow. The best-documented genetic factor is alpha-1 antitrypsin (AAT). AAT is encoded by the SERPINA1 gene. The PiZ (rs28929474) and PiS (rs17580) variants are believed to cause severe AAT deficiency and are linked to a high risk of developing COPD. This study sought to identify whether genetic polymorphisms rs28929474 and rs17580 are associated with COPD susceptibility and lung function values in a Mexican mestizo population. METHODS: In this study, 558 smokers were included, of whom 279 had COPD and 279 did not (smokers without COPD - SWC). The PiS and PiZ variants were genotyped by allelic discrimination. Independent populations and lung function values were compared using the Kruskal-Wallis test. A bivariate logistic regression analysis was also conducted. RESULTS: Stage I and iv COPD patients showed significant differences in the frequencies of both heterozygous genotypes compared to SWC. For PiS, individuals with the heterozygous genotype AT demonstrated a decreased FEV1/FVC ratio compared to subjects with the homozygous genotype AA (P=0.037). A significant association was found between the FEV1/FVC ratio and genotype AA for PiS (OR=0.982, ß coefficient=-0.019, 95% CI=0.966-0.997). CONCLUSIONS: COPD-causing AAT deficiency risk alleles exist at a very low frequency among Mexican mestizo population. Although they are not directly linked in our study population with disease susceptibility, these risk alleles are associated with poorer lung function measurements. It is important to characterize how often these genetic risk variants occur in other Latin American populations.

Xylene keratopathy: a case report and review of the literature.

PURPOSE: To report a case of direct contact xylene-related vacuolar keratopathy. METHODS: Interventional case report and review of the literature. RESULTS: Xylene keratopathy is a distinct clinical entity characterized by significantly decreased visual acuity, increased corneal thickness, and the presence of corneal epithelial and stromal vacuoles on a diffuse gray stromal background. The vacuoles are diffusely scattered, subtle, and clear on slit-lamp examination. Occasionally, white, round, denser areas can also be observed. Xylene keratopathy disappeared gradually over 4 weeks with topical steroid treatment and did not cause permanent sequelae. CONCLUSIONS: Xylene exposure should be considered as possible etiologic agent of vacuolar epithelial and stromal keratopathy. Exposure may occur directly as a splash of liquid or through its vapors.

"Pig in a poke (gato por liebre)": the "mota" (Calophysus macropterus) fishery, molecular evidence of commercialization in Colombia and toxicological analyses.

Overfishing has affected the population abundance trends of many commercial fish species. In the Amazon, the fishery of a catfish commonly known as "mota" or "piracatinga" (Calophysus macropterus) has become an important economic activity in the region as this species has replaced a number of other overexploited great catfish species in the markets. Due to this high exploitation, ways in which to increase captures have been identified. One strategy is to use decomposing animal carcasses as bait. Such strategy has increased the hunting pressure on endangered species such as caimans and river dolphins. We investigated which catfish species are currently commercialized in Colombian fish markets using DNA barcoding, and measured mercury concentration in the tissues of fish molecularly identified as C. macropterus. We collected 86 fish samples in markets of four Colombian cities. Sixty-eight of these were identified molecularly as C.macropterus. The mercury concentration of 29 such samples was analyzed. Samples presented total Hg concentrations higher than the limit for human consumption established by the WHO (0.5 µg/g). These results are worrisome and suggest that (1) C. macropterus is a widely used fish species for human consumption in Colombia and (2) C. macropterus has high concentrations of total Hg, making its consumption a public health risk. Results presented here suggest that C. macropterus has replaced capaz in most Colombian markets. This fishery threatens wild species of river dolphins and caimans, and is also a public health risk given the high mercury levels we found in a subsample of these fishes.