Risk-mitigating behaviours in people with inflammatory skin and joint disease during the COVID-19 pandemic differ by treatment type: a cross-sectional patient survey.

BACKGROUND: Registry data suggest that people with immune-mediated inflammatory diseases (IMIDs) receiving targeted systemic therapies have fewer adverse coronavirus disease 2019 (COVID-19) outcomes compared with patients receiving no systemic treatments. OBJECTIVES: We used international patient survey data to explore the hypothesis that greater risk-mitigating behaviour in those receiving targeted therapies may account, at least in part, for this observation. METHODS: Online surveys were completed by individuals with psoriasis (globally) or rheumatic and musculoskeletal diseases (RMDs) (UK only) between 4 May and 7 September 2020. We used multiple logistic regression to assess the association between treatment type and risk-mitigating behaviour, adjusting for clinical and demographic characteristics. We characterized international variation in a mixed-effects model. RESULTS: Of 3720 participants (2869 psoriasis, 851 RMDs) from 74 countries, 2262 (60·8%) reported the most stringent risk-mitigating behaviour (classified here under the umbrella term 'shielding'). A greater proportion of those receiving targeted therapies (biologics and Janus Kinase inhibitors) reported shielding compared with those receiving no systemic therapy [adjusted odds ratio (OR) 1·63, 95% confidence interval (CI) 1·35-1·97]. The association between targeted therapy and shielding was preserved when standard systemic therapy was used as the reference group (OR 1·39, 95% CI 1·23-1·56). Shielding was associated with established risk factors for severe COVID-19 [male sex (OR 1·14, 95% CI 1·05-1·24), obesity (OR 1·37, 95% CI 1·23-1·54), comorbidity burden (OR 1·43, 95% CI 1·15-1·78)], a primary indication of RMDs (OR 1·37, 95% CI 1·27-1·48) and a positive anxiety or depression screen (OR 1·57, 95% CI 1·36-1·80). Modest differences in the proportion shielding were observed across nations. CONCLUSIONS: Greater risk-mitigating behaviour among people with IMIDs receiving targeted therapies may contribute to the reported lower risk of adverse COVID-19 outcomes. The behaviour variation across treatment groups, IMIDs and nations reinforces the need for clear evidence-based patient communication on risk-mitigation strategies and may help inform updated public health guidelines as the pandemic continues.

Marked host association and molecular evidence of limited transmission of ticks and fleas between sympatric wild foxes and rural dogs.

Wild and domestic carnivores share ectoparasites, although molecular evidence is lacking. The goals of this study were to describe tick and flea infestation in sympatric free-ranging dogs Canis lupus familiaris (Linnaeus, 1758) (Carnivora: Canidae) and Andean foxes Lycalopex culpaeus (Molina, 1782) (Carnivora: Canidae) and to determine whether interspecific transmission occurs. Fleas and ticks retrieved from 79 foxes and 111 dogs in the human-dominated landscapes of central Chile were identified and a subset of specimens characterized by PCR and amplicon sequencing. Each ectoparasite species was clearly associated with a host: abundance and occurrence of Rhipicephalus sanguineus (Latreille 1806) (Acari: Ixodidae) and Ctenocephalides spp. (Siphonaptera: Pulicidae) were significantly higher in dogs than in foxes, whereas the opposite was true for Amblyomma tigrinum (Koch, 1844) (Acari: Ixodidae) and Pulex irritans (Linnaeus, 1758) (Siphonaptera: Pulicidae). Genetic analyses of a subset of ectoparasites revealed that dogs and foxes shared a limited number of nucleotide sequence types, suggesting that the interspecific transmission of these ectoparasites happens infrequently. Data also indicated that the ecological association and biological cycles of ticks and fleas determine the ectoparasite fauna of sympatric carnivores. In conclusion, our study shows that cross-species transmission should be assessed at a molecular level.

Characterization and validation of olive FAD and SAD gene families: expression analysis in different tissues and during fruit development.

Stearoyl-ACP desaturases (SADs) and fatty acid desaturases (FADs) play a critical role in plant lipid metabolism and also affect oil fatty acid composition introducing double bonds into the hydrocarbon chains to produce unsaturated fatty acids. In the present study, the genomic sequences of three SAD and three FAD candidate genes were characterized in olive and their expression was evaluated in different plant tissues. OeSAD genes corresponded to olive SAD1 and SAD2 and to a newly identified OeSAD4, sharing the conserved protein structure with other plant species. On the other hand, the full-length genomic sequences of two microsomal OeFAD genes (FAD2-1 and FAD2-2) and the plastidial FAD6, were released. When the level of expression was tested on different tissues of cv. Leccino, OeSAD1 and OeSAD2 were mainly expressed in the fruits, while OeFAD genes showed the lowest expression in this tissue. The mRNA profiling of all genes was directly studied in fruits of Leccino and Coratina cultivars during fruit development. In both genotypes, the expression level of OeSAD1 and OeSAD2 had the highest value during and after the pit-hardening period, when oil accumulation in fruit mesocarp is intensively increasing. Furthermore, the expression level of both OeFAD2 genes, which were the main candidates for oleic acid desaturation, were almost negligible during fruit ripening. These results have made possible to define candidate genes of the machinery regulation of fatty acid composition in olive oil, providing information on their sequence, gene structure and chromosomal location.

Adaptation and validation of a Spanish-language version of the Frontotemporal Dementia Rating Scale (FTD-FRS). / Adaptación y validación de la Frontotemporal Dementia Rating Scale (FTD-FRS) al castellano.

INTRODUCTION: The Frontotemporal Dementia Rating Scale (FTD-FRS) is a tool designed to aid with clinical staging and assessment of the progression of frontotemporal dementia (FTD-FRS). OBJECTIVE: Present a multicentre adaptation and validation study of a Spanish version of the FRS. METHODOLOGY: The adapted version was created using 2 translation-back translation processes (English to Spanish, Spanish to English) and verified by the scale's original authors. We validated the adapted version in a sample of consecutive patients diagnosed with FTD. The procedure included evaluating internal consistency, testing unidimensionality with the Rasch model, analysing construct validity and discriminant validity, and calculating the degree of agreement between the Clinical Dementia Rating scale (CDR) and FTD-FRS for FTD cases. RESULTS: The study included 60 patients with DFT. The mean score on the FRS was 12.1 points (SD=6.5; range, 2-25) with inter-group differences (F=120.3; df=3; P<.001). Cronbach's alpha was 0.897 and principal component analysis of residuals delivered an acceptable eigenvalue for 5 contrasts (1.6-2.7) and 36.1% raw variance. FRS was correlated with the Mini-mental State Examination (r=0.572; P<.001) and functional capacity (DAD; r=0.790; P<.001). FTD-FRS also showed a significant correlation with CDR (r=-0.641; P<.001), but we did observe variability in the severity levels; cases appeared to be less severe according to the CDR than when measured with the FTD-FRS (kappa=0.055). CONCLUSIONS: This process of validating the Spanish translation of the FTD-FRS yielded satisfactory results for validity and unidimensionality (severity) in the assessment of patients with FTD.

Exophytic papillary penile cancer.

Penile carcinoma is a rare disease that has a wide range of pathology and morbidity. Occurs commonly in the 6th and 7th decades of life. Squamous cell carcinoma (SCC) is the predominant histological type. We present a case of a penile lesion of exophytic papillary morphology accompanied by multiple bilateral mobile inguinal lymph nodes.

[High flow nasal cannula in infants: Experience in a critical patient unit]. / Cánula nasal de alto flujo en lactantes: experiencia en una unidad de paciente crítico.

INTRODUCTION: The high flow nasal cannula (HFNC) is a method of respiratory support that is increasingly being used in paediatrics due to its results and safety. OBJECTIVE: To determine the efficacy of HFNC, as well as to evaluate the factors related to its failure and complications associated with its use in infants. PATIENTS AND METHOD: An analysis was performed on the demographic, clinical, blood gas, and radiological data, as well as the complications of patients connected to a HFNC in a critical care unit between June 2012 and September 2014. A comparison was made between the patients who failed and those who responded to HFNC. A failure was considered as the need for further respiratory support during the first 48hours of connection. The Kolmogorov Smirnov, Mann-Whitney U, chi squared and the Exact Fisher test were used, as well as correlations and a binary logistic regression model for P≤.05. RESULTS: The study included 109 patients, with a median age and weight: 1 month (0.2-20 months) and 3.7kg (2-10kg); 95 percentile: 3.7 months and 5.7kg, respectively. The most frequent diagnosis and radiological pattern was bronchiolitis (53.2%) and interstitial infiltration (56%). Around 70.6% responded. There was a significant difference between failure and response in the diagnosis (P=.013), radiography (P=018), connection context (P<.0001), pCO2 (median 40.7mmHg [15.4-67 mmHg] versus 47.3mmHg [28.6-71.3mmHg], P=.004) and hours on HFNC (median 60.75hrs [5-621.5 hrs] versus 10.5hrs [1-29 hrs], P<.0001). The OR of the PCO2 ≥ 55mmHg for failure was 2.97 (95% CI; 1.08-8.17; P=.035). No patient died and no complications were recorded. CONCLUSION: The percentage success observed was similar to that published. In this sample, the failure of HFNC was only associated with an initial pCO2 ≥ 55mmHg. On there being no complications reported as regards it use, it is considered safe, although a randomised, controlled, multicentre study is required to compare and contrast these results.

Checklist: Neck computed tomography in non-traumatic emergencies.

Patients attending the emergency department (ED) with cervical inflammatory/infectious symptoms or presenting masses that may involve the aerodigestive tract or vascular structures require a contrast-enhanced computed tomography (CT) scan of the neck. Its radiological interpretation is hampered by the anatomical complexity and pathophysiological interrelationship between the different component systems in a relatively small area. Recent studies propose a systematic evaluation of the cervical structures, using a 7-item checklist, to correctly identify the pathology and detect incidental findings that may interfere with patient management. As a conclusion, the aim of this paper is to review CT findings in non-traumatic pathology of the neck in the ED, highlighting the importance of a systematic approach in its interpretation and synthesis of a structured, complete, and concise radiological report.

Effects of neonatal programming on hypothalamic mechanisms controlling energy balance.

The prevalence of overweight and obesity in most developed countries has markedly increased during the last decades. In addition to genetic, hormonal, and metabolic influences, environmental factors like fetal and neonatal nutrition play key roles in the development of obesity. Interestingly, overweight during critical developmental periods of fetal and/or neonatal life has been demonstrated to increase the risk of obesity throughout juvenile life into adulthood. In spite of this evidence, the specific mechanisms underlying this fetal/neonatal programming are not perfectly understood. However, it is clear that circulating hormones such as insulin and leptin play a critical role in the development and programming of hypothalamic circuits regulating energy balance. Here, we review what is currently known about the impact of perinatal malnutrition on the mechanisms regulating body weight homeostasis. Understanding these molecular mechanisms may provide new targets for the treatment of obesity.

Mutational analysis of AXIN2, MSX1, and PAX9 in two Mexican oligodontia families.

The genes for axin inhibition protein 2 (AXIN2), msh homeobox 1 (MSX1), and paired box gene 9 (PAX9) are involved in tooth root formation and tooth development. Mutations of the AXIN2, MSX1, and PAX9 genes are associated with non-syndromic oligodontia. In this study, we investigated phenotype and AXIN2, MSX1, and PAX9 gene variations in two Mexican families with non-syndromic oligodontia. Individuals from two families underwent clinical examinations, including an intra-oral examination and panoramic radiograph. Retrospective data were reviewed, and peripheral blood samples were collected. The exons and exon-intronic boundaries of the AXIN2, MSX1, and PAX9 genes were sequenced and analyzed. Protein and messenger RNA structures were predicted using bioinformative software programs. Clinical and oral examinations revealed isolated non-syndromic oligodontia in the two Mexican families. The average number of missing teeth was 12. The sequence analysis of exons and exon-intronic regions of AXIN2, MSX1, and PAX9 revealed 11 single-nucleotide polymorphisms (SNPs), including seven in AXIN2, two in MSX1, and three in PAX9. One novel SNP of MSX1, c.476T>G (Leu159Arg), was found in all of the studied patients in the families. MSX1 Leu159Arg and PAX9 Ala240Pro change protein and messenger RNA structures. Our findings suggested that a combined reduction of MSX1 and PAX9 gene dosages increased the risk for oligodontia in the Mexican families, as in vivo investigation has indicated that interaction between Msx1 and Pax9 is required for tooth development.

Culture-negative TB: clinical characteristics, risk factors and treatment outcomes.

BACKGROUND: Although culture remains the standard for TB diagnosis, 15-20% of patients diagnosed and treated for TB are culture-negative. We explored clinical characteristics, risk factors and treatment outcomes for culture-negative TB in a Peruvian cohort.METHODS: We recruited 4,500 index TB patients and 10,160 household contacts in Lima, Peru, and enrolled 692 secondary patients diagnosed with TB during follow-up of household contacts. We analyzed smear and culture status, sociodemographic factors, clinical characteristics and TB treatment outcomes to compare culture-negative and positive patients.RESULTS: Of the 4,880 adult patients, 915 (18.8%) were culture-negative. Culture-negative patients were less likely to report symptoms of TB disease and disease of longer duration. A multivariate analysis showed no statistically significant difference in loss to follow-up, treatment failure or recurrence between the culture-negative and -positive groups but a higher rate of death among culture-negative patients with an adjusted OR of 1.65 (95% CI 1.05-2.60). In a multivariate analysis of determinants of culture negativity, older age, substance use and being a secondary case were associated with culture status.CONCLUSIONS: More recognition and awareness of culture-negative TB is key for early and correct diagnosis to reduce transmission and improve treatment outcomes.

Exhaled breath condensate analysis after long distance races.

The impact of an endurance race on pulmonary pro-oxidative formation and lipoperoxidation was evaluated using exhaled breath condensate (EBC). 3 groups of 12, 12 and 17 healthy recreational runners of both sexes ran 10, 21.1 and 42.2 km, respectively. EBC samples were obtained before the run and at 20 and 80 min post run. Concentrations of H2O2, NO2 - , malondialdehyde and pH were determined. The 10 km group showed no post-run variations for H2O2 and NO2 - concentrations. The 21.1 km group showed significant increments for NO2 - , and H2O2 concentrations in 20 min and 80 min samples. The 42.2 km group, showed increased NO2 - concentration in 20 min and 80 min samples, while H2O2 concentration increased only in the 20 min sample. In the 10 and 42.2 km groups neither malondialdehyde concentration nor pH showed differences. The 42.2 km group exhibited ΔH2O2 and ΔNO2 - medians higher than the 10 km group. ΔpH median decreased in 21.1 and 42.2 km groups, exhibiting values significantly lower than the 10 km group. ΔH2O2 y ΔNO2 - correlated directly with race time, while ΔpH, correlated inversely. In conclusion, intense prolonged exercise favors the increase in pulmonary pro-oxidative levels, with no modifications on lipoperoxidation. Running time relates to the magnitude of acute post exercise pro-oxidative formation.

Phenotype characterization and sequence analysis of BMP2 and BMP4 variants in two Mexican families with oligodontia.

Both BMP2 and BMP4 are involved in tooth development. We examined phenotypes and BMP2 and BMP4 gene variations in two Mexican oligodontia families. Physical and oral examinations and panoramic radiographs were performed on affected and unaffected members in these two families. The affected members lacked six or more teeth. DNA sequencing was performed to detect BMP2 and BMP4 gene variations. Three single nucleotide polymorphisms (SNPs) in BMP2 and BMP4 genes were identified in the two families, including one synonymous and two missense SNPs: BMP2 c261A>G, pS87S, BMP2 c570A>T, pR190S, and BMP4 c455T>C, pV152A. Among the six affected patients, 67% carried "GG" or "AG" genotype in BMP2 c261A>G and four were "TT" or "AT" genotype in BMP2 c570A>T (pR190S). Polymorphism of BMP4 c455T>C resulted in amino acid changes of Val/Ala (pV152A). BMP2 c261A>G and BMP4 c455T>C affect mRNA stability. This was the first time that BMP2 and BMP4 SNPs were observed in Mexican oligodontia families.

Correlation between femoral version and severity of hip dysplasia in patients with advanced osteoarthritis prior to total hip arthroplasty. / Correlación entre versión femoral y gravedad de displasia del desarrollo de cadera en pacientes con artrosis avanzada.

INTRODUCTION: Developmental dysplasia of the hip (DDH) is a condition which comprises a number of joint abnormalities, including modifications in femoral version and neck-shaft angle (CCD), as well as a probable progression to osteoarthritis in certain cases. The main objective of this research was to find a correlation between femoral version and severity of DDH in patients with advanced osteoarthritis prior to joint replacement, which has not been previously reported. A secondary aim was to describe the modification of CCD as the severity of DDH increases. MATERIALS AND METHOD: Patients over the age of 15 with dysplastic hips and severe osteoarthritis prior to total hip arthroplasty were assessed between March 2018 and February 2019. Cases with any previous hip surgery were excluded. Anteroposterior pelvis X rays and femoral computed tomography (CT) were performed; femoral version was measured in CT and CCD was evaluated both in X rays (2 observers: A and B) and CT (one observer: musculoskeletal radiologist). Severity of DDH was defined by observers A and B according to Crowe classification in X rays. Statistical analysis was performed on SPSS v.21. Shapiro-Wilk test was used to confirm a normal data distribution. Intraclass correlation coefficient (ICC) determined the level of agreement between observers A and B. Pearson test assessed the correlation between femoral version and Crowe classification (positive if >0.5). Student's t test evaluated the statistical significance, which was defined as P<0.05. RESULTS: One-year assessment; 42 patients (54 hips), 76% women. Mean age 52.7 years. 45 hips completed the imaging set, 9 hips were assessed only with X rays. 48%, 16%, 7% and 28% were classified as Crowe I, II, III and IV (100% interobserver agreement). Crowe classes were grouped as I, II/III and IV due to a low number of cases classified as II and III. Mean femoral version was 21.73°, 26.8° and 43.58°, respectively. ICC between observers A and B for CCD measured in X rays was 0.96. Mean CCD measured in X rays for each group (I, II/III and IV) was 148.11°, 147.7° and 147°, and in CT was 131.21°, 127.9° and 122.14°, respectively. A significant difference was found in femoral version between groups I and IV (P=0.0002) and II/III and IV (P=0.042). Pearson correlation between femoral version and severity of DDH was positive (r=0.52; P=0.0002). A significant difference between CCD measured in CT was found between groups I and IV (P=0.003). CONCLUSIONS: A significant increase in femoral version related to severity of DDH and a positive correlation between these 2features were found. Furthermore, a significant decrease in CCD between groups I and IV measured in CT was revealed. These findings would be helpful for preoperative planning of total hip replacement in osteoarthritis secondary to DDH, because once the surgeon has assessed the severity of DDH on X rays or CT, an increased femoral version could be expected. Therefore, availability of specific implants such as conic, modular or cemented stems is critical, in order to modify the femoral anteversion to normal values in the most severe cases.

Using digital chatbots to close gaps in healthcare access during the COVID-19 pandemic.

INTRODUCTION: Chatbots have emerged as a first link to care in recent years. The COVID-19 pandemic, and consequent health system disruptions, expanded their use. Socios En Salud (SES) introduced chatbots in Peru, which experienced one of the highest excess COVID mortalities in the world. METHODS: SES and the government identified unmet population health needs, which could be amenable to virtual interventions. Chatbots were developed to screen individuals for these conditions; we describe the period of deployment, number of screenings, and number of people who received services. RESULTS: Between April 2020 and May 2021, SES deployed nine ChatBots: four for mental health, two for maternal and child health, and three for chronic diseases: breast cancer, hypertension, diabetes mellitus, and obesity. Mental health services were provided to 42,932 people, 99.99% of those offered services. The other ChatBots reached fewer people. Overall, more than 50% of eligible people accepted chatbot-based services. DISCUSSION: ChatBot use was highest for mental health. Chatbots may increase connections between a vulnerable population and health services; this is likely dependent on several factors, including condition, population, and penetration of smart phones. Future research will be critical to understand user experience and preferences and to ensure that chatbots link vulnerable populations to appropriate, high-quality care.

INTRODUCTION: Les chatbots se sont imposés comme un premier lien aux soins ces dernières années. La pandémie de COVID-19, et les perturbations du système de santé qui en ont résultées, ont élargi leur champ d'application. Socios En Salud (SES) a introduit les chatbots au Pérou, qui a connu l'une des surmortalités dues au COVID les plus élevées au monde. MÉTHODES: SES et le gouvernement ont identifié des besoins non satisfaits en matière de santé de la population, qui pourraient faire l'objet d'interventions virtuelles. Des chatbots ont été développés pour dépister des individus pour ces conditions ; nous décrivons la période de leur déploiement, le nombre de dépistages et le nombre de personnes qui ont reçu ces services. RÉSULTATS: Entre avril 2020 et mai 2021, SES a déployé neuf ChatBots : quatre pour la santé mentale, deux pour la santé maternelle et infantile et trois pour les maladies chroniques, comme le cancer du sein, l'hypertension, le diabète et l'obésité. Des services de santé mentale ont été fournis à 42 932 personnes, soit 99,99% des personnes proposées. Les autres ChatBots ont touché moins de personnes. Dans l'ensemble, plus de 50% des personnes éligibles ont accepté les services proposés par les chatbots. DISCUSSION: L'utilisation des ChatBots était la plus élevée pour la santé mentale. Les chatbots peuvent augmenter les connexions entre une population vulnérable et les services de santé, mais cela dépende de plusieurs facteurs, dont la condition, la type de population et la pénétration des smartphones. Les recherches futures seront essentielles pour comprendre l'expérience et les préférences des utilisateurs et pour s'assurer que les chatbots relient les populations vulnérables vulnérables aux soins appropriés et de qualité.

[Parkinson's disease phenotype based on age at onset in Latin American patients: a paired-based analysis]. / Fenotipo de la enfermedad de Parkinson basado en la edad de inicio en pacientes latinoamericanos: un análisis emparejado.

INTRODUCTION: Studies have demonstrated a higher motor and non-motor burden in Parkinson's disease (PD) patients with old age at onset compared to those with middle age at onset. We decided to test these findings in a Latin American PD population. PATIENTS AND METHODS: We recruited 24 PD patients with age at onset > 65 years, and each patient was matched to 1 control patient with disease onset at ages between 48 and 60 years, matched for gender and disease duration (±2 years). Clinical test batteries that assessed motor (MDS-UPDRS), non-motor (NMSS), cognitive (MoCA), and quality of life (PDQ-8) were recorded. Groups were compared with conditional logistic regression analysis. A comparative post-hoc analysis was also conducted, considering only patients with age at onset > 70 years (n = 11) and their matched controls. RESULTS: Mean age at onset was 70.53 ± 3.28 and 53.79 ± 4.96 for the old-age and middle-age group, respectively. No significant differences were observed in most clinical batteries when comparing PD patients based on age at onset, with worse scores in MDS-UPDRS Part III and Tremor subscore in the middle-age onset group. The post-hoc analysis showed similar results, with non-significantly worse scores in the middle-age onset group. CONCLUSION: This is the first study reporting a more benign motor phenotype in old-age onset PD patients. Despite the lower cut-off value used for old age onset PD, vascular, epidemiological, ethnic and treatment adherence features must be also considered as potential explicative factors, with further multicenter studies in larger populations needed.

TITLE: Fenotipo de la enfermedad de Parkinson basado en la edad de inicio en pacientes latinoamericanos: un análisis emparejado.Introducción. Diversos estudios han demostrado una mayor gravedad de sintomatología motora y no motora en pacientes con enfermedad de Parkinson (EP) con edad de inicio tardía comparados con los de inicio intermedio. Decidimos probar estos resultados en una población con EP en Latinoamérica. Pacientes y métodos. Reclutamos a 24 pacientes con EP con una edad de inicio > 65 años (inicio tardío), y cada paciente se emparejó con un control con inicio de la enfermedad entre los 48 y los 60 años (inicio intermedio), emparejados por sexo y duración de la enfermedad (±2 años). Se registraron baterías de pruebas clínicas que evaluaron los síntomas motores ­escala unificada de la enfermedad de Parkinson modificada por la Sociedad de Trastornos del Movimiento (MDS-UPDRS)­, los no motores (escala de síntomas no motores), los cognitivos (escala de evaluación cognitiva de Montreal) y la calidad de vida (cuestionario de enfermedad de Parkinson 8). Los grupos se compararon con análisis de regresión logística condicional. Resultados. La edad media de inicio fue de 70,53 ± 3,28 y 53,79 ± 4,96 para los grupos de inicio tardío y de inicio intermedio, respectivamente. No se observaron diferencias significativas en la mayoría de las baterías clínicas cuando se compararon los pacientes con EP según la edad de inicio, con peores puntuaciones significativamente en la MDS-UPDRS, parte III, y en su subdominio de temblor en el grupo de inicio intermedio. Conclusiones. Éste es el primer estudio que informa sobre un fenotipo motor más benigno en pacientes con EP de inicio tardío. A pesar de utilizar una edad de corte más baja para definir el inicio tardío, las características vasculares, epidemiológicas, étnicas y de adhesión al tratamiento también deben considerarse como posibles factores explicativos.

A serosurvey for spotted fever group Rickettsia and Coxiella burnetii antibodies in rural dogs and foxes, Chile.

Antibodies against Spotted Fever Group (SFG) Rickettsia and Coxiella burnetii, investigated through indirect antibody immunofluorescence tests, were detected in serum samples from 3.1% and 0% of 358 rural dogs, respectively, and in none of 32 wild foxes tested. SFG Rickettsia seropositive dogs were only detected in the Mountain Desert (8%) and the Steppe-Mediterranean (9%) regions. Exposure in the Mountain Desert, where no ticks and fleas were found on any dog, could correspond to a new SFG Rickettsia sp. recently described in soft ticks or to a related agent. Our survey confirms low endemicity in the country of C. burnetii, as observed in recent serosurveys in humans.

SNP discovery and association study for growth, fatness and meat quality traits in Iberian crossbred pigs.

Iberian pigs and its crosses are produced to obtain high-quality meat products. The objective of this work was to evaluate a wide panel of DNA markers, selected by biological and functional criteria, for association with traits related to muscle growth, fatness, meat quality and metabolism. We used 18 crossbred Iberian pigs with divergent postnatal growth patterns for whole genome sequencing and SNP discovery, with over 13 million variants being detected. We selected 1023 missense SNPs located on annotated genes and showing different allele frequencies between pigs with makerdly different growth patterns. We complemented this panel with 192 candidate SNPs obtained from literature mining and from muscle RNAseq data. The selected markers were genotyped in 480 Iberian × Duroc pigs from a commercial population, in which phenotypes were obtained, and an association study was performed for the 1005 successfully genotyped SNPs showing segregation. The results confirmed the effects of several known SNPs in candidate genes (such as LEPR, ACACA, FTO, LIPE or SCD on fatness, growth and fatty acid composition) and also disclosed interesting effects of new SNPs in less known genes such as LRIG3, DENND1B, SOWAHB, EPHX1 or NFE2L2 affecting body weight, average daily gain and adiposity at different ages, or KRT10, NLE1, KCNH2 or AHNAK affecting fatness and FA composition. The results provide a valuable basis for future implementation of marker-assisted selection strategies in swine and contribute to a better understanding of the genetic architecture of relevant traits.