Novel Fibrillar and Non-Fibrillar Collagens Involved in Fibrotic Scar Formation after Myocardial Infarction.

Following myocardial infarction (MI), adverse remodeling depends on the proper formation of fibrotic scars, composed of type I and III collagen. Our objective was to pinpoint the participation of previously unreported collagens in post-infarction cardiac fibrosis. Gene (qRT-PCR) and protein (immunohistochemistry followed by morphometric analysis) expression of fibrillar (types II and XI) and non-fibrillar (types VIII and XII) collagens were determined in RNA-sequencing data from 92 mice undergoing myocardial ischemia; mice submitted to permanent (non-reperfused MI, n = 8) or transient (reperfused MI, n = 8) coronary occlusion; and eight autopsies from chronic MI patients. In the RNA-sequencing analysis of mice undergoing myocardial ischemia, increased transcriptomic expression of collagen types II, VIII, XI, and XII was reported within the first week, a tendency that persisted 21 days afterwards. In reperfused and non-reperfused experimental MI models, their gene expression was heightened 21 days post-MI induction and positively correlated with infarct size. In chronic MI patients, immunohistochemistry analysis demonstrated their presence in fibrotic scars. Functional analysis indicated that these subunits probably confer tensile strength and ensure the cohesion of interstitial components. Our data reveal that novel collagens are present in the infarcted myocardium. These data could lay the groundwork for unraveling post-MI fibrotic scar composition, which could ultimately influence patient survivorship.

Five-year (2015-2019) follow-up study of 6,526 cases of medical repatriation of Filipino seafarers.

BACKGROUND: There is a limited number of studies on the medical repatriation of seafarers. The aim of the study was to follow up on the previous 2010-2014 study using data from 2015-2019 to evaluate the epidemiology of medical repatriation among Filipino seafarers. MATERIALS AND METHODS: Data from medical repatriation records of Filipino seafarers from January 2015 to December 2019 were collected from various claims departments of different manning agencies in Manila, Philippines. RESULTS: Data from a total of 6,526 medical repatriation cases and 464,418 deployments in a 5-year period resulted in a medical repatriation rate calculated at 1.4%. We used the 10th revision of the International Statistical Classification of Diseases and Related Health Problems (ICD-10) to determine the most common causes of repatriation. We found that these were musculoskeletal disorders, gastrointestinal problems, and traumatic injuries. The distribution of the specific illnesses per organ system is presented. CONCLUSIONS: Filipinos continue to represent the most numerous group of seafarers in the world. The continued profiling of health issues should lead to better health protocols and controlling medical costs. It should also lead to better prioritisation of health protection and care on board ships. Within the present 10-year database of medical repatriations coinciding with the implementation of Maritime Convention Labour Convention 2006, there is a compelling need to compare the two data sets to have an objective evaluation of the convention's projected goals.

First report of Fusarium oxysporum f. sp. fragariae race 2 causing Fusarium wilt of strawberry (Fragaria × ananassa) in California.

In California, Fusarium wilt of strawberry is widespread and causes significant yield losses. Resistant cultivars with the FW1 gene were protected against Fusarium wilt because all strains of Fusarium oxysporum f. sp. fragariae (Fof) in California were race 1 (i.e., avirulent to FW1-resistant cultivars) (Henry et al. 2017; Pincot, et al. 2018; Henry et al. 2021). In the fall of 2022, severe wilt disease was observed in an organic, summer-planted strawberry field in Oxnard, California. Fusarium wilt symptoms were common and included wilted foliage, deformed and highly chlorotic leaflets, and crown discoloration. The field was planted with Portola, a cultivar with the FW1 gene that is resistant to Fof race 1 (Pincot et al. 2018; Henry et al. 2021). Two samples, each consisting of four plants, were collected from two different locations within the field. Crown extracts from each sample were tested for Fof, Macrophomina phaseolina, Verticillium dahliae, and Phytophthora spp. by recombinase polymerase amplification (RPA) (Steele et al. 2022). Petioles were surface sterilized in 1% sodium hypochlorite for 2 minutes and plated on Komada's medium to select for Fusarium spp. (Henry et al. 2021; Komada, 1975). The RPA results were positive for M. phaseolina in one sample and negative for all four pathogens in the other sample. Salmon-colored, fluffy mycelia grew profusely from petioles of both samples. Colony morphology and non-septate, ellipsoidal microconidia (6.0-13 µm × 2.8-4.0 µm) borne on monophialides resembled F. oxysporum. Single hyphal tip isolation of fourteen cultures (P1-P14) was done to purify single genotypes. None of these pure cultures amplified with Fof-specific qPCR (Burkhardt et al. 2019), confirming the negative result obtained with RPA. Translation elongation factor 1-alpha (EF1α) was amplified using EF1/EF2 primers (O'Donnell et al. 1998) from three isolates. Amplicons were sequenced (GenBank OQ183721) and found through BLAST search to have 100% identity with an isolate of Fusarium oxysporum f. sp. melongenae (GenBank FJ985297). There was at least one nucleotide difference when compared to all known strains of Fof race 1 (Henry et al. 2021). Five isolates (P2, P3, P6, P12, and P13) and an Fof race 1 control isolate (GL1315) were tested for pathogenicity on Fronteras (FW1) and Monterey (fw1; susceptible to race 1). Five plants per isolate × cultivar combination were inoculated by dipping roots in 5 × 106 conidia per mL of 0.1% water agar, or in sterile 0.1% water agar for the negative control, and grown as described by Jenner and Henry (2022). After six weeks, all non-inoculated control plants remained healthy while plants of both cultivars inoculated with the five isolates were severely wilted. Petiole assays yielded colonies identical in appearance to the inoculated isolates. For Fof race 1-inoculated plants, wilt symptoms were observed in Monterey but not in Fronteras. This experiment was repeated with P2, P3, P12, and P13 on another FW1 cultivar, San Andreas, and the same results were observed. To our knowledge, this is the first report of F. oxysporum f. sp. fragariae race 2 in California. Losses to Fusarium wilt are likely to increase until genetic resistance to this strain of Fof race 2 is deployed in commercially viable cultivars.

THE CEMENTED DOUBLE MOBILITY CUP IN HIP REVISION: DIFFERENT POSSIBILITIES OF USE.

Introduction: The aim of our work is to review those patients who underwent prosthetic hip revision surgery in our hospital considered to be patients at high risk of dislocation or recurrent dislocation, and who underwent a double mobility cemented cup (CMD). Analyzing the different ways to place these cups and the clinical results and reluxations. Material and methods: The 69 cases comprised 34 men and 35 women with a mean age of 77,39 years. The mean follow-up was 4.7536 years. The type of intervention performed varied according to the cause of the intervention, the acetabular bone stock and the state of the primary cup. In the cases in which there was a good fixation of the primary metalback, we opted to carry out a cementation of the cemented DMC into the existing well-fixed metal acetabular shell, this occurred in 23 cases. In the cases where there was loosening of the primary cup but there was a good bone stock, a CMD was cemented into the bone (21 cases). In the cases where there was a Paprosky type III we cemented a DMC to a Bursch-Schneider reinforcement ring together with the placement of a cancellous bone graft (25 cases). Results: The clinical evaluation at the end of the follow-up, according to the MD Scale, showed the mean value was 16.454 (SD 0.79472), with a survival at the end of the follow-up of 100% of the placed DMC. Conclusion: The use of cemented DMC is a good solution in the replacement of THA, especially in cases of reluxation or risk of dislocation due to personal or technical predisposing factors. The use of these DMC cemented can be directly to the bone, into the existing well-fixed metal Shell, or cemented to a reinforcing ring, depending on the acetabular defect. Evidence Level III; Comparative Case Series .

Introdução: Revisar os pacientes que foram submetidos à cirurgia de revisão protética de quadril neste hospital, considerados como pacientes com alto risco de luxação ou luxação recorrente, submetidos a cirurgia por acetábulo cimentado de dupla mobilidade (CMD). Analisando as diferentes formas de posicionamento desses copos, seus resultados clínicos e reluxações. Material e métodos: Os 69 casos correspondiam a 34 homens e 35 mulheres com uma idade média de 77,39 anos. O tempo médio de acompanhamento foi de 4,7536 anos. O tipo de intervenção realizada variou de acordo com a causa da intervenção, o estoque ósseo acetabular e o estado do copo primário. Nos casos em que houve uma boa fixação do metal primário, optouse por realizar uma cimentação do DMC cimentado na cúpula acetabular metálica firme existente, o que ocorreu em 23 casos. Nos casos em que houve um afrouxamento acetabular primário com um bom estoque ósseo disponível, cimentou-se um CMD (21 caixas). Nos casos em que havia um Paprosky tipo III, cimentou-se um DMC a um anel de reforço Bursch-Schneider juntamente com a colocação de um enxerto ósseo esponjoso (25 caixas). Resultados: A avaliação clínica realizada no final do acompanhamento, de acordo com a Escala MD, mostrou que o valor médio foi de 16,454 (DP 0,79472), com uma sobrevivência ao final do acompanhamento de 100% do DMC inserido. Conclusão: O uso do DMC cimentado pode ser uma boa solução para substituição do THA, especialmente em casos de reluxação ou risco de deslo-camento devido a fatores de predisposição pessoais ou técnicos. O uso destes DMC cimentados pode ser realizado diretamente ao osso, dentro da cúpula metálica fixa existente, ou cimentados a um anel de reforço, dependendo do defeito acetabular. Nível de Evidência III; Série de Casos Comparativos .

Sporodochia Formed by Fusarium oxysporum f. sp. fragariae Produce Airborne Conidia and Are Ubiquitous on Diseased Strawberry Plants in California.

Sporodochia are dense masses of fungal hyphae bearing asexual conidia. For Fusarium oxysporum, sporodochia are known to produce airborne conidia and enhance the dissemination of this otherwise soilborne pathogen. Sporodochia are small and transient, and they are documented for only a few formae speciales of F. oxysporum. This study reports airborne conidia and sporodochia produced by F. oxysporum f. sp. fragariae, the cause of Fusarium wilt of strawberry, in the Monterey Bay region of California. Sporodochia were discovered in 21 of 24 Fusarium wilt-diseased fields surveyed for this study and were readily observed on most symptomatic plants in these fields. Only necrotic tissues bore sporodochia, and they were most frequently observed on petioles and peduncles. Sporodochia covered significantly greater lengths of peduncles than petioles, extending from the base of the plant toward the upper part of the canopy. A stolon hosted the longest stretch of sporodochial growth, found covering the stolon's entire 35-cm length and the base of the daughter plant. Macroconidia were produced by all sporodochia samples, and we did not find microconidia on any samples. An initial series of experiments confirmed the potential for conidia produced by sporodochia to disperse with wind over short distances. The prevalence of sporodochia producing airborne spores of F. oxysporum f. sp. fragariae has great importance for disease management and biosecurity. [Formula: see text] Copyright © 2023 The Author(s). This is an open access article distributed under the CC BY-NC-ND 4.0 International license.

The cemented double mobility cup in hip revision: different possibilities of use / Acetábulo cimentado de dupla mobilidade em revisão de quadril: distintas possibilidades de uso

ABSTRACT Introduction: The aim of our work is to review those patients who underwent prosthetic hip revision surgery in our hospital considered to be patients at high risk of dislocation or recurrent dislocation, and who underwent a double mobility cemented cup (CMD). Analyzing the different ways to place these cups and the clinical results and reluxations. Material and methods: The 69 cases comprised 34 men and 35 women with a mean age of 77,39 years. The mean follow-up was 4.7536 years. The type of intervention performed varied according to the cause of the intervention, the acetabular bone stock and the state of the primary cup. In the cases in which there was a good fixation of the primary metalback, we opted to carry out a cementation of the cemented DMC into the existing well-fixed metal acetabular shell, this occurred in 23 cases. In the cases where there was loosening of the primary cup but there was a good bone stock, a CMD was cemented into the bone (21 cases). In the cases where there was a Paprosky type III we cemented a DMC to a Bursch-Schneider reinforcement ring together with the placement of a cancellous bone graft (25 cases). Results: The clinical evaluation at the end of the follow-up, according to the MD Scale, showed the mean value was 16.454 (SD 0.79472), with a survival at the end of the follow-up of 100% of the placed DMC. Conclusion: The use of cemented DMC is a good solution in the replacement of THA, especially in cases of reluxation or risk of dislocation due to personal or technical predisposing factors. The use of these DMC cemented can be directly to the bone, into the existing well-fixed metal Shell, or cemented to a reinforcing ring, depending on the acetabular defect. Evidence Level III; Comparative Case Series.

RESUMO Introdução: Revisar os pacientes que foram submetidos à cirurgia de revisão protética de quadril neste hospital, considerados como pacientes com alto risco de luxação ou luxação recorrente, submetidos a cirurgia por acetábulo cimentado de dupla mobilidade (CMD). Analisando as diferentes formas de posicionamento desses copos, seus resultados clínicos e reluxações. Material e métodos: Os 69 casos correspondiam a 34 homens e 35 mulheres com uma idade média de 77,39 anos. O tempo médio de acompanhamento foi de 4,7536 anos. O tipo de intervenção realizada variou de acordo com a causa da intervenção, o estoque ósseo acetabular e o estado do copo primário. Nos casos em que houve uma boa fixação do metal primário, optouse por realizar uma cimentação do DMC cimentado na cúpula acetabular metálica firme existente, o que ocorreu em 23 casos. Nos casos em que houve um afrouxamento acetabular primário com um bom estoque ósseo disponível, cimentou-se um CMD (21 caixas). Nos casos em que havia um Paprosky tipo III, cimentou-se um DMC a um anel de reforço Bursch-Schneider juntamente com a colocação de um enxerto ósseo esponjoso (25 caixas). Resultados: A avaliação clínica realizada no final do acompanhamento, de acordo com a Escala MD, mostrou que o valor médio foi de 16,454 (DP 0,79472), com uma sobrevivência ao final do acompanhamento de 100% do DMC inserido. Conclusão: O uso do DMC cimentado pode ser uma boa solução para substituição do THA, especialmente em casos de reluxação ou risco de deslo-camento devido a fatores de predisposição pessoais ou técnicos. O uso destes DMC cimentados pode ser realizado diretamente ao osso, dentro da cúpula metálica fixa existente, ou cimentados a um anel de reforço, dependendo do defeito acetabular. Nível de Evidência III; Série de Casos Comparativos.

Comprensión Hermenéutica de una Ontologia del Presente en la Era Digital / Hermeneutic Understanding of an Ontology of the Present in the Digital Age / Compreensão Hermenêutica de uma Ontologia do Presente na Era Digital

Resumen EL presente como categoría filosófica, expresa un carácter conductual, que se asume como una actitud (ethos) frente a un mundo digital. Este "ethos" configura una relacionalidad entre Lo humano y La máquina, construye puentes de apertura (apertus) que consolida unidades de posibilidad existencial a través de prácticas que manifiestan, no una digitalización, sino, una digitalización, esto es, una praxis particular y singular que, en el marco digital, pretende comprender intencionalmente el campo existencial del ser humano en las lógicas digitales. Esta digitalización como práctica, configura, "el presente" que en el marco de lo digital se constituye en una racionalidad, una especie de capacidad que tienen los seres humanos de analizar a través de un ejercicio mental la realidad existencial de sí mismo y de su entorno.

Abstract The present as a philosophical category, expresses a behavioral character, which is assumed as an attitude (ethos) towards a digital world. This "ethos" configures a relationship between the human and the machine, builds bridges of opening (apertus) that consolidates units of existential possibility through practices that manifest, not a digitization, but a digitiza-tion, that is, a praxis particular and unique that, in the digital framework, intends to intentionally understand the existential field of the human being in digital logics. This digitaliza-tion as a practice configures "the present" that in the digital framework constitutes a rationality, a kind of capacity that human beings have to analyze through a mental exercise the existential reality of themselves and of your environment.

Resumo O presente como categoria filosófica expressa um caráter comportamental, que se assume como uma atitude (ethos) em relação a um mundo digital. Esse "ethos" configura uma relação entre o humano e a máquina, constrói pontes de abertura (apertus) que consolida unidades de possibilidade existencial por meio de práticas que manifestam, não uma digitalização, mas uma digitalização, ou seja, uma práxis particular e única que, no quadro digital, pretende compreender intencionalmente o campo existencial do ser humano nas lógicas digitais. Essa digitaliza-ção como prática configura "o presente" que no quadro digital constitui uma racionalidade, uma espécie de capacidade que os seres humanos têm de analisar por meio de um exercício mental a realidade existencial de si e de seu ambiente.

Síndrome hepatorrenal en falla hepática aguda sobre crónica / Hepatorrenal syndrome in acute on chronic hepatic failure

Resumen La insuficiencia hepática aguda sobre crónica (ACLF, por su nombre en inglés: Acute-on-Chronic Liver Failure) es una entidad de reciente caracterización que se presenta como una descompensación aguda de una hepatopatía crónica, la cual puede ir asociada a falla en diferentes órganos y presentar una alta mortalidad. Su incidencia alcanza hasta un 30% de pacientes que consultan por complicaciones asociadas a cirrosis de base. Dentro de los factores precipitantes más frecuentes se encuentran las infecciones bacterianas, el alcoholismo y la reactivación de hepatitis virales; no obstante, hasta en un 40% de los casos no se identifica ningún factor precipitante. La fisiopatología de esta entidad aún es desconocida en cierta medida, pero se plantea la existencia de una respuesta inflamatoria excesiva en su desarrollo. No existe ningún tratamiento específico y su manejo se basa en el tratamiento para complicaciones asociadas, soporte y finalmente trasplante hepático. La disfunción renal es un hallazgo común en pacientes con enfermedad hepática. Se pensaba que el síndrome hepatorrenal era de carácter meramente funcional. Ahora, ante la evidencia de algún grado de daño tubular relacionado, se ha mejorado la comprensión de la fisiopatología de dicha entidad, lo que ha obligado recientemente a replantear los criterios diagnósticos y la clasificación de la enfermedad. Describimos el caso clínico de una paciente atendida en un centro hospitalario en la ciudad de Pereira, Risaralda. Ella presentó bacteriemia por cocos Gram positivos de origen no claro, lo que se consideró como el factor precipitante; tuvo deterioro clínico, con aparición de síndrome hepatorrenal y falla multiorgánica, lo que finalmente la llevo a la muerte, a pesar del manejo multidisciplinario.

Abstract Acute-on-chronic liver failure (ACLF) is a recently characterized entity that presents as an acute decompensation of chronic liver disease. It can be associated with failure in different organs and presents a high mortality rate. Its incidence reaches up to 30% on patients consulting for complications derived from cirrhosis. Among the most frequent precipitating factors, there are bacterial infections, alcoholism, and reactivation of viral hepatitis; however, in up to 40% of the cases, no precipitating factor is identified. The pathophysiology of this entity is still unknown to a certain extent, but the existence of an excessive inflammatory response in its development is suggested. There is no specific treatment and its management is based on treatment for associated complications, support, and finally liver transplantation. Kidney dysfunction is a common finding in patients with liver disease. The understanding of the pathophysiology of this entity, previously thought to be purely functional in nature, yet now given the evidence of some degree of related tubular damage, has improved and has recently entailed a rethink of the diagnostic criteria and the classification of the illness. We describe the clinical case of a patient treated at a hospital in the city of Pereira, Risaralda, who presented bacteremia due to Gram-positive cocci of unclear origin, considered as the precipitating factor. The patient had clinical deterioration, as well as the onset of hepatorenal syndrome and multi-organ failure, finally leading to death despite multidisciplinary treatment.

Comorbidity burden in terms of disability in patients with osteoarthritis in Mexico. The IMPACTAR registry.

OBJECTIVE: To determine the comorbidities associated with disability in patients with OA in Mexico (2013-2015). MATERIAL AND METHODS: A cross-sectional, retrospective and multicentre IMPACTAR study (n=7703) in Mexican patients (2013-2015). Comorbidities associated with disability were identified in 4971 patients diagnosed with OA from the IMPACTAR registry (n=7073). An adjusted logistic regression analysis was carried out by demographic, economic, clinical and medical variables. RESULTS: Mean age was 63 years; and 75% of the patients were women. Subjects with OA and presence of comorbidities are 42% more likely to develop disabilities than patients without associated comorbidity, considering age, sex, family income, OA diagnosis duration, and education level. The highest rate of people with disability (28.9%) was concentrated in Region 7, which corresponds to Mexico City. There are also significant differences between median family incomes, when the income of persons with disability is under $13 000 (IQR: 9000-16 000) Mexican pesos, compared to patients without disability. Almost half of the subjects (49.6%) reported having at least one comorbidity. Arterial hypertension was the risk factor with a statistically significant difference (32.8%) among those with disability (34.7%). CONCLUSIONS: Programs and interventions for OA patients should take into consideration comorbidity factors, being female, family income, and the region of residence as variables that may increase the possibility of developing an OA-associated disability.

Comparative genomic analysis of genogroup 1 and genogroup 2 rotaviruses circulating in seven US cities, 2014-2016.

For over a decade, the New Vaccine Surveillance Network (NVSN) has conducted active rotavirus (RVA) strain surveillance in the USA. The evolution of RVA in the post-vaccine introduction era and the possible effects of vaccine pressure on contemporary circulating strains in the USA are still under investigation. Here, we report the whole-gene characterization (eleven ORFs) for 157 RVA strains collected at seven NVSN sites during the 2014 through 2016 seasons. The sequenced strains included 52 G1P[8], 47 G12P[8], 18 G9P[8], 24 G2P[4], 5 G3P[6], as well as 7 vaccine strains, a single mixed strain (G9G12P[8]), and 3 less common strains. The majority of the single and mixed strains possessed a Wa-like backbone with consensus genotype constellation of G1/G3/G9/G12-P[8]-I1-R1-C1-M1-A1-N1-T1-E1-H1, while the G2P[4], G3P[6], and G2P[8] strains displayed a DS-1-like genetic backbone with consensus constellation of G2/G3-P[4]/P[6]/P[8]-I2-R2-C2-M2-A2-N2-T2-E2-H2. Two intergenogroup reassortant G1P[8] strains were detected that appear to be progenies of reassortment events between Wa-like G1P[8] and DS-1-like G2P[4] strains. Two Rotarix® vaccine (RV1) and two RV5 derived (vd) reassortant strains were detected. Phylogenetic and similarity matrices analysis revealed 2-11 sub-genotypic allelic clusters among the genes of Wa- and DS-1-like strains. Most study strains clustered into previously defined alleles. Amino acid (AA) substitutions occurring in the neutralization epitopes of the VP7 and VP4 proteins characterized in this study were mostly neutral in nature, suggesting that these RVA proteins were possibly under strong negative or purifying selection in order to maintain competent and actual functionality, but fourteen radical (AA changes that occur between groups) AA substitutions were noted that may allow RVA strains to gain a selective advantage through immune escape. The tracking of RVA strains at the sub-genotypic allele constellation level will enhance our understanding of RVA evolution under vaccine pressure, help identify possible mechanisms of immune escape, and provide valuable information for formulation of future RVA vaccines.

Clinical Characteristics and Predictors of Short-Term Outcome in Mexican Adult Patients with Guillain-Barré Syndrome.

BACKGROUND: Information regarding the clinical presentation and outcome of Guillain-Barré Syndrome (GBS) in adults from Latin America is limited. OBJECTIVE: To identify clinical characteristics and short-term outcome predictors in adult Mexican patients with GBS. PATIENTS AND METHODS: We included adult patients with clinical and electrophysiological data with confirmed GBS, admitted to a tertiary hospital in Western Mexico, from January 2002 to February 2011. A good outcome at hospital discharge was considered if patients had a Hughes score of 0-2 and at 3 and 6 months, a Hughes score of 0-1. RESULTS: A total of 115 patients were analyzed (68% men, mean age 44 years old, range 18-84). Previous infection occurred in 63% of cases. Descendent pattern of weakness was observed in 40 (35%) patients. GBS subtypes were: acute motor axonal neuropathy in 31%, acute inflammatory demyelinating polyneuropathy in 29%, sensory axonal neuropathy (AMSAN) in 18%, and equivocal in 22%. A total of 73 (63%) patients received induction therapy: 50 (68%) received plasmapheresis and 13 (18%) received intravenous immunoglobulin (IVIG). In-hospital mortality occurred in 14 (12%) patients. Early gait complaints and emergency room admission with mild Hughes score (0-2) were predictors for a good outcome at hospital discharge (P < 0.05); meanwhile, age >75 years; dysarthria and higher Hughes score were associated with a poor outcome(P < 0.05). CONCLUSIONS: Axonal pattern, motor involvement, and the descendent pattern of presentation were the main clinical GBS findings in our cohort. Higher Hughes scale scores at hospital admission were a strong predictor for a bad outcome at hospital discharge and short-term follow-up, independently of treatment type or in-hospital management. GBS in Mexico still carries considerable mortality.

Molecular study of sticky platelet syndrome using exorne sequencing / Estudio molecular del síndrome de plaqueta pegajosa mediante secuenciación del exoma

Abstract Introduction: Sticky platelet syndrome (SPS) is a prothrombotic condition characterized by increased platelet aggregation that causes arterial and venous thrombosis. Its diagnosis is reached by identifying increased aggregation using low concentrations of adenosine diphosphate and epinephrine in platelet aggregation tests. Objectives: To identify common mutations through exome sequencing in two patients from the same family diagnosed with SPS and, thus, contribute to the molecular study of this disease. Materials and methods: Descriptive study. In January 2018, exome sequencing was performed in a 10-year-old patient treated at Fundación HOMI (Bogotá D.C., Colombia), index case, and in one of his adult first-degree relatives, both with a history of thrombotic disease and diagnosed with SPS. Exome sequencing was performed at the Complexo Hospitalario Universitario de Santiago de Compostela (Spain) using the SureSelect Clinical Research Exome V2 software by Agilent. Results: Exome sequencing led to detect genetic variants in both cases when compared with the reference sequence. The following variant was identified in the two samples: a cytosine to thymine transition at position c.236 (NM_000174.4) of the glycoprotein (GP)Ib-IX-V complex platelet membrane receptor, which causes a heterozygous transition of the amino acid threonine to isoleucine (i.e., a transition from hydrophilic amino acid to a hydrophobic amino acid) at position p. 79 of the extracellular leucine-rich repeat domain of GPIba subunit of the (GP)Ib-IX complex, involving a conformational change of the main receptor of ligands IB alpha, which might result in platelet hyperaggregation and thrombosis. This variant has not been described in patients with SPS to date. Conclusion: The mutation identified in both samples could be related to SPS considering the importance of glycoprotein IX in platelet function.

Resumen Introducción. El síndrome de plaqueta pegajosa (SPP) es una condición protrombótica caracterizada por un incremento de la agregabilidad plaquetaria que causa trombosis arterial y venosa. Su diagnóstico se realiza al identificar el aumento de la agregabilidad utilizando bajas concentraciones de adenosín difosfato y epinefrina en pruebas de agregación plaquetaria. Objetivos. Identificar mutaciones comunes mediante secuenciación del exoma en dos pacientes de una misma familia con diagnóstico de SPP y, de esta forma, contribuir al estudio molecular de esta enfermedad. Materiales y métodos. Estudio descriptivo en el que se realizó secuenciación del exoma en un paciente de 10 años atendido en la Fundación HOMI (Bogotá, Colombia), caso índice, y en uno de sus familiares adultos en primer grado, ambos con antecedente de enfermedad trombótica y diagnosticados con SPP. La secuenciación del exoma se realizó en el Complexo Hospitalario Universitario de Santiago de Compostela (España) con el programa SureSelect Clinical Research Exome V2 de Agilent. Resultados. En la secuenciación del exoma se detectaron variantes genéticas en ambos casos en comparación con la secuencia de referencia. En las muestras de ambos pacientes se identificó una variante heterocigota consistente en una transición de citosina a timina en la posición c.236 (NM_000174.4) que provoca el cambio del aminoácido treonina por isoleucina en la posición p.79 del dominio extracelular repetitivo rico en leucina (subunidad GPIba del complejo de la glicoproteína Ib-IX-V) y que podría provocar el cambio conformacional del receptor principal del ligando Ib alfa, así como hiperagregación plaquetaria y trombosis. Esta variante no ha sido descrita previamente en pacientes con SPP. Conclusión. La mutación identificada en las muestras estudiadas podría estar relacionada con el SPP considerando la importancia de la glicoproteína IX en las funciones plaquetarias.

Comorbidity burden in terms of disability in patients with osteoarthritis in Mexico. The IMPACTAR registry.

OBJECTIVE: To determine the comorbidities associated with disability in patients with OA in Mexico (2013-2015). MATERIAL AND METHODS: A cross-sectional, retrospective and multicentre IMPACTAR study (n=7703) in Mexican patients (2013-2015). Comorbidities associated with disability were identified in 4971 patients diagnosed with OA from the IMPACTAR registry (n=7073). An adjusted logistic regression analysis was carried out by demographic, economic, clinical and medical variables. RESULTS: Mean age was 63 years; and 75% of the patients were women. Subjects with OA and presence of comorbidities are 42% more likely to develop disabilities than patients without associated comorbidity, considering age, sex, family income, OA diagnosis duration, and education level. The highest rate of people with disability (28.9%) was concentrated in Region 7, which corresponds to Mexico City. There are also significant differences between median family incomes, when the income of persons with disability is under $13 000 (IQR: 9000-16 000) Mexican pesos, compared to patients without disability. Almost half of the subjects (49.6%) reported having at least one comorbidity. Arterial hypertension was the risk factor with a statistically significant difference (32.8%) among those with disability (34.7%). CONCLUSIONS: Programs and interventions for OA patients should take into consideration comorbidity factors, being female, family income, and the region of residence as variables that may increase the possibility of developing an OA-associated disability.

Secuestro pulmonar intralobar y aspergilosis pulmonar: reporte de un caso / Intralobar pulmonary sequestration and pulmonary aspergilosis: a case report

El secuestro pulmonar es un tipo de malformación congénita pulmonar poco frecuente, con presentación clínica variable y de usual diagnóstico durante la infancia. Puede coexistir con otras patologías pulmonares, principalmente de tipo infecciosas y su manejo definitivo es mediante un procedimiento quirúrgico. Se presenta el caso de una paciente adulta con secuestro pulmonar, asociado a una infección fúngica, manejada con cirugía mínimamente invasiva

Pulmonary sequestration is a rare type of congenital pulmonary malformation, with variable clinical presentation and usually diagnosed during childhood. It can coexist with other pulmonary pathologies, mainly infectious, and its definitive management is through a surgical procedure. We present the case of an adult patient with pulmonary sequestration associated with a fungal infection, managed with minimally invasive surgery

Is neighborhood poverty harmful to every child? Neighborhood poverty, family poverty, and behavioral problems among young children.

This longitudinal study investigates the association between neighborhood poverty and behavioral problems among young children. This study also examines whether social environments mediate the relationship between neighborhood poverty and behavioral problems. We used data from the third and fourth waves of the Fragile Families and Child Wellbeing study to assess behavioral problems separately for children who experienced no family poverty, moved out of family poverty, moved into family poverty, and experienced long-term family poverty. Regression models assessed the effect of neighborhood poverty on behavioral problem outcomes among children aged 5 years, after controlling for sociodemographic characteristics and earlier behavioral problems. Results showed an association between neighborhood poverty and lower social cohesion and safety, which lead to greater externalizing problems among children with long-term family poverty living in high-poverty neighborhoods compared with those in low-poverty neighborhoods. Policies and community resources need to be allocated to improve neighborhood social environments, particularly for poor children in high-poverty neighborhoods.

Knowledge of the consequences and use of drugs for CostaRica niversity students / Conhecimento das consequências e do uso de drogas em estudantes universitários costarriquenses / Conocimiento de las consecuencias y uso de drogas en estudiantes universitarios costarricenses

ABSTRACT Objective: to determine the relationship between knowledge of consequences and drug use in undergraduate students of a university in San José, Costa Rica. Method: the cross-sectional study examines the demographic profile of the sample and the relationship between knowledge of consequences, drug use and academic performance. The study focuses on three types of drugs: alcohol, marijuana and cocaine. Three variables will be analyzed: demographic data, knowledge of consequences and use of drugs. Results: the relationship between knowledge of consequences and use of drugs was made using of the T-test. The sample had 272 students, 28.2% (n=77) of them were men and 71.4% were women (n=195). They were selected from the areas of social sciences (n=137, 50.2%), and from the area of health sciences (n=136; 49.8%). Alcohol was the most used drug (n=217, 79.8%), followed by marijuana (n=72, 26.6%) and finally cocaine (n=3, 1.1%) in the last 12 months. Conclusion: the results shown indicate that there is no significant relationship between such variables. The findings are important at the level of drug policies to support the development of new preventive strategies for drug use.

RESUMO Objetivo: determinar a relação entre o conhecimento das consequências e o uso de drogas em estudantes de graduação de uma universidade em San José, Costa Rica. Método: este estudo, de corte transversal, examina o perfil demográfico da amostra e a relação entre o conhecimento das consequências, o uso de drogas e o desempenho acadêmico. A pesquisa centra-se em três tipos de drogas: álcool, maconha e cocaína. Três variáveis foram analisadas: os dados demográficos, o conhecimento das consequências e o uso de drogas. Resultados: a relação entre o conhecimento das consequências e o uso de drogas foi realizada através do uso do T-test. A amostra foi composta por 272 estudantes, sendo 28,2% (n=77) homens e 71,4% mulheres (n=195); selecionados da área de ciências sociais (n=137; 50,2%), e da área de ciências da saúde (n=136; 49,8%). O álcool foi a droga mais utilizada (n=217; 79,8%), seguida da maconha (n=72; 26,6%) e, finalmente, a cocaína (n=3; 1.1%) nos últimos 12 meses. Conclusão: os resultados demostram que não existe relação significativa entre tais variáveis, e são importantes no nível das políticas de drogas para apoiar o desenvolvimento de novas estratégias preventivas para o uso de drogas.

RESUMEN Objetivo: determinar la relación entre conocimiento de consecuencias y uso de drogas en estudiantes de pregrado de una universidad en San José, Costa Rica. Método: el estudio, de corte transversal, examina el perfil demográfico de la muestra y la relación entre conocimiento de consecuencias, uso de drogas y rendimiento académico. El estudio se enfoca en tres tipos de droga: alcohol, marihuana y cocaína. Se analizarán tres variables: datos demográficos, conocimiento de consecuencias y uso de drogas. Resultados: la relación entre conocimiento de consecuencias y uso de drogas se realizó mediante el uso de la prueba T-test. La muestra fue de 272 estudiantes, con un 28.2% (n=77) de hombres y 71.4% de mujeres (n=195); seleccionados de las áreas de ciencias sociales (n=137; 50.2%), y del área de ciencias de la salud (n=136; 49.8%). El alcohol fue la droga más utilizada (n=217; 79.8%), seguida por marihuana (n=72; 26.6%) y finalmente la cocaína (n=3; 1.1%) en los últimos 12 meses. Conclusion: los resultados mostrados indican que no hay una relación significativa entre tales variables. Los hallazgos son importantes a nivel de políticas de drogas para apoyar el desarrollar de nuevas estrategias preventivas de uso de drogas.