Hiperostosis cortical congénita: una causa infrecuente de llanto inconsolable del lactante. Presentación de caso clínico / Congenital cortical hyperostosis: a rare cause of inconsolable crying in a baby. Clinical case report

Se presenta el caso de un lactante de 2 meses que fue llevado a consulta varias veces por llanto problemático, inicialmente interpretado como de causa gastrointestinal. Dado que el síntoma persistía, se sospechó de una fractura debido a su asociación con la movilización de los miembros y la palpación de una tumoración en la cara anterior de la tibia derecha. Las radiografías mostraron compromiso poliostótico diafisario y lesiones compatibles con compromiso cortical de huesos largos. Se realizó el diagnóstico operativo de síndrome de Caffey-De Toni-Silverman y se inició el tratamiento con antiinflamatorios no esteroideos, lo que resultó en una remisión sintomática. Posteriormente, se confirmó el diagnóstico mediante la identificación de la variante patogénica COL1A1 en estado heterocigota. Se trata de una patología rara de la cual se estima una incidencia de 48/100 000 y hay menos de 150 casos descritos al momento.

Here we describe the case of a 2-month-old infant who consulted several times due to excessive crying, initially interpreted as having a gastrointestinal cause. Since the symptom persisted, a fracture was suspected due to its association with mobilization of the limbs and palpation of a mass on the anterior aspect of the right tibia. X-rays showed diaphyseal polyostotic involvement and lesions compatible with cortical involvement of long bones. Caffey-De Toni-Silverman syndrome was diagnosed and treatment with nonsteroidal anti-inflammatory drugs was initiated, resulting in symptom remission. Subsequently, the diagnosis was confirmed by the identification of the pathogenic heterozygous variant COL1A1. This is a rare condition with an estimated incidence of 48/100 000 individuals, and less than 150 cases have been described to date.

Adolescentes con trastornos de la conducta alimentaria durante la pandemia por COVID-19: cambios en vínculos sociales y modalidades de atención / Adolescents with eating disorders during the COVID-19 pandemic: Changes in social ties and healthcare modalities

Introducción. La pandemia por COVID-19 ha tenido un impacto profundo en la salud de la población joven de todo el mundo y especialmente en personas con trastornos de la conducta alimentaria (TCA) por situaciones de estrés, ansiedad y cambios en el acceso a la atención médica. Objetivo. Explorar las percepciones de adolescentes sobre los cambios en sus vínculos sociales y modalidades de atención en pacientes con TCA. Población y métodos. Se realizó un estudio cualitativo a través de entrevistas en profundidad a adolescentes con TCA en un hospital universitario durante la pandemia por COVID-19. Resultados. Se entrevistó a 15 adolescentes; el 93 % fueron mujeres y la mediana de edad fue 18 años. El 86,6 % tuvo anorexia nerviosa. Los aspectos negativos percibidos más importantes fueron los malestares en la convivencia familiar (80 %) y la disconformidad con los contenidos de las redes sociales sobre la imagen corporal y dietas (73 %). Los aspectos percibidos positivos fueron la ayuda de los pares (66 %) y mejoras en relación con la alimentación (66 %). El principal cambio identificado en comparación con el tratamiento recibido previo a la pandemia por COVID-19 fue el seguimiento virtual por salud mental (73 %). Conclusión. La población adolescente con TCA durante el ASPO manifestó malestar en la convivencia familiar y disconformidad en los contenidos en redes sociales sobre imagen corporal y dietas. Aunque resaltaron como aspectos positivos la ayuda de los pares y mejoras en su alimentación

Introduction. The COVID-19 pandemic has had a profound impact on the health of young people worldwide, especially on people with eating disorders (EDs) due to the stress, anxiety, and changes experienced in access to health care. Objective. To explore adolescents' perceptions on changes in their social ties and the modalities of health care for patients with EDs. Population and methods. Qualitative study using in-depth interviews with adolescents with EDs seen at a teaching hospital during the COVID-19 pandemic. Results. Fifteen adolescents were interviewed; their mean age was 18 years; 93% were girls. Anorexia nervosa was observed in 86.6%. The most relevant negative aspects perceived were discomfort with family life (80%) and dissatisfaction with social media content regarding body image and dieting (73%). The aspects perceived as positive were peer support (66%) and improvements in eating habits (66%). The main change identified regarding the management before the COVID-19 pandemic was online followup by the mental healthcare team (73%). Conclusion. The adolescent population with EDs during the mandatory social isolation period reported discomfort with family life and dissatisfaction with social media content regarding body image and dieting. Notwithstanding this, adolescents highlighted peer support and improvements in their eating habits as positive aspects.

Gene Variants of the OAS/RNase L Pathway and Their Association with Severity of Symptoms and Outcome of SARS-CoV-2 Infection.

INTRODUCTION: The interferon pathway plays a critical role in triggering the immune response to SARS-CoV-2, and these gene variants may be involved in the severity of COVID-19. This study aimed to analyze the frequency of three gene variants of OAS and RNASEL with the occurrence of COVID-19 symptoms and disease outcome. METHODS: This cross-sectional study included 104 patients with SARS-CoV-2 infection, of which 34 were asymptomatic COVID-19, and 70 were symptomatic cases. The variants rs486907 (RNASEL), rs10774671 (OAS1), rs1293767 (OAS2), and rs2285932 (OAS3) were screened and discriminated using a predesigned 5'-nuclease assay with TaqMan probes. RESULTS: Patients with the allele C of the OAS2 gene rs1293767 (OR = 0.36, 95% CI: 0.15-0.83, p = 0.014) and allele T of the OAS3 gene rs2285932 (OR = 0.39, 95% CI: 0.2-0.023, p = 0.023) have lower susceptibility to developing symptomatic COVID-19. The genotype frequencies (G/G, G/C, and C/C) of rs1293767 for that comparison were 64.7%, 29.4%, and 5.9% in the asymptomatic group and 95.2%, 4.8%, and 0% in severe disease (p < 0.05). CONCLUSIONS: Our data indicate that individuals carrying the C allele of the OAS2 gene rs1293767 and the T allele of the OAS3 gene rs2285932 are less likely to develop symptomatic COVID-19, suggesting these genetic variations may confer a protective effect among the Mexican study population. Furthermore, the observed differences in genotype frequencies between asymptomatic individuals and those with severe disease emphasize the potential of these variants as markers for disease severity. These insights enhance our understanding of the genetic factors that may influence the course of COVID-19 and underscore the potential for genetic screening in identifying individuals at increased risk for severe disease outcomes.

Adolescents with eating disorders during the COVID-19 pandemic: Changes in social ties and healthcare modalities. / Adolescentes con trastornos de la conducta alimentaria durante la pandemia por COVID-19: cambios en vínculos sociales y modalidades de atención.

Introduction. The COVID-19 pandemic has had a profound impact on the health of young people worldwide, especially on people with eating disorders (EDs) due to the stress, anxiety, and changes experienced in access to health care. Objective. To explore adolescents' perceptions on changes in their social ties and the modalities of health care for patients with EDs. Population and methods. Qualitative study using in-depth interviews with adolescents with EDs seen at a teaching hospital during the COVID-19 pandemic. Results. Fifteen adolescents were interviewed; their mean age was 18 years; 93% were girls. Anorexia nervosa was observed in 86.6%. The most relevant negative aspects perceived were discomfort with family life (80%) and dissatisfaction with social media content regarding body image and dieting (73%). The aspects perceived as positive were peer support (66%) and improvements in eating habits (66%). The main change identified regarding the management before the COVID-19 pandemic was online followup by the mental healthcare team (73%). Conclusion. The adolescent population with EDs during the mandatory social isolation period reported discomfort with family life and dissatisfaction with social media content regarding body image and dieting. Notwithstanding this, adolescents highlighted peer support and improvements in their eating habits as positive aspects.

Introducción. La pandemia por COVID-19 ha tenido un impacto profundo en la salud de la población joven de todo el mundo y especialmente en personas con trastornos de la conducta alimentaria (TCA) por situaciones de estrés, ansiedad y cambios en el acceso a la atención médica. Objetivo. Explorar las percepciones de adolescentes sobre los cambios en sus vínculos sociales y modalidades de atención en pacientes con TCA. Población y métodos. Se realizó un estudio cualitativo a través de entrevistas en profundidad a adolescentes con TCA en un hospital universitario durante la pandemia por COVID-19. Resultados. Se entrevistó a 15 adolescentes; el 93 % fueron mujeres y la mediana de edad fue 18 años. El 86,6 % tuvo anorexia nerviosa. Los aspectos negativos percibidos más importantes fueron los malestares en la convivencia familiar (80 %) y la disconformidad con los contenidos de las redes sociales sobre la imagen corporal y dietas (73 %). Los aspectos percibidos positivos fueron la ayuda de los pares (66 %) y mejoras en relación con la alimentación (66 %). El principal cambio identificado en comparación con el tratamiento recibido previo a la pandemia por COVID-19 fue el seguimiento virtual por salud mental (73 %). Conclusión. La población adolescente con TCA durante el ASPO manifestó malestar en la convivencia familiar y disconformidad en los contenidos en redes sociales sobre imagen corporal y dietas. Aunque resaltaron como aspectos positivos la ayuda de los pares y mejoras en su alimentación.

Comparative Transcriptome Analysis of Babesia bigemina Attenuated Vaccine and Virulent Strains of Mexican Origin.

Bovine babesiosis, caused by the protozoan Babesia bigemina, is one of the most important hemoparasite diseases of cattle in Mexico and the world. An attenuated B. bigemina strain maintained under in vitro culture conditions has been used as a live attenuated vaccine; however, the biological mechanisms involved in attenuation are unknown. The objective of this study was to identify, through a comparative transcriptomics approach, the components of the B. bigemina virulent parasites that are differentially expressed in vivo, as opposed to those expressed by B. bigemina attenuated vaccine parasites when inoculated into naïve cattle. The biological material under study was obtained by inoculating spleen-intact cattle with infected erythrocytes containing either the attenuated strain or a virulent field strain. After RNA extraction, transcriptomic analysis (RNA-seq) was performed, followed by bioinformatic Differential Expression (DE) analysis and Gene Ontology (GO) term enrichment. The high-throughput sequencing results obtained by analyzing three biological replicates for each parasite strain ranged from 9,504,000 to 9,656,000, and 13,400,000 to 15,750,000 reads for the B. bigemina attenuated and virulent strains, respectively. At least 519 differentially expressed genes were identified in the analyzed strains. In addition, GO analysis revealed both similarities and differences across the three categories: cellular components, biological processes, and molecular functions. The attenuated strain of B. bigemina derived from in vitro culture presents global transcriptomic changes when compared to the virulent strain. Moreover, the obtained data provide insights into the potential molecular mechanisms associated with the attenuation or pathogenicity of each analyzed strain, offering molecular markers that might be associated with virulence or potential vaccine candidates.

Congenital cortical hyperostosis: a rare cause of inconsolable crying in a baby. Clinical case report. / Hiperostosis cortical congénita: una causa infrecuente de llanto inconsolable del lactante. Presentación de caso clínico.

Here we describe the case of a 2-month-old infant who consulted several times due to excessive crying, initially interpreted as having a gastrointestinal cause. Since the symptom persisted, a fracture was suspected due to its association with mobilization of the limbs and palpation of a mass on the anterior aspect of the right tibia. X-rays showed diaphyseal polyostotic involvement and lesions compatible with cortical involvement of long bones. Caffey-De Toni-Silverman syndrome was diagnosed and treatment with nonsteroidal anti-inflammatory drugs was initiated, resulting in symptom remission. Subsequently, the diagnosis was confirmed by the identification of the pathogenic heterozygous variant COL1A1. This is a rare condition with an estimated incidence of 48/100 000 individuals, and less than 150 cases have been described to date.

Se presenta el caso de un lactante de 2 meses que fue llevado a consulta varias veces por llanto problemático, inicialmente interpretado como de causa gastrointestinal. Dado que el síntoma persistía, se sospechó de una fractura debido a su asociación con la movilización de los miembros y la palpación de una tumoración en la cara anterior de la tibia derecha. Las radiografías mostraron compromiso poliostótico diafisario y lesiones compatibles con compromiso cortical de huesos largos. Se realizó el diagnóstico operativo de síndrome de Caffey-De Toni-Silverman y se inició el tratamiento con antiinflamatorios no esteroideos, lo que resultó en una remisión sintomática. Posteriormente, se confirmó el diagnóstico mediante la identificación de la variante patogénica COL1A1 en estado heterocigota. Se trata de una patología rara de la cual se estima una incidencia de 48/100 000 y hay menos de 150 casos descritos al momento.

Lesiones ocasionadas por mordeduras de perros en niños atendidos en un hospital de tercer nivel de Bolivia / Dog bite injuries in children seen at a tertiary care hospital in Bolivia

Introducción. Este estudio pretende caracterizar las lesiones provocadas por perros en niños de un hospital pediátrico de Bolivia. Población y métodos. Se realizó un estudio observacional, retrospectivo, en pacientes atendidos del 2017 al 2021. Resultados. Se estudiaron 769 pacientes. Las lesiones representaron el 5,6 % de las emergencias y el 0,8 % de las internaciones. Fueron más frecuentes en niños de hasta 5 años (55,1 %), en quienes se observó mayor gravedad de las lesiones (p = 0,008), antecedente de provocación al animal (p = 0,048), un animal agresor conocido (p <0,036), el contexto doméstico del accidente (p = 0,021), mayor frecuencia de profilaxis con suero luego de la exposición (p = 0,005) y regiones afectadas principalmente maxilofaciales (p <0,001). Observamos 3 casos de mortalidad por rabia humana y 1 por shock hipovolémico. Conclusión. Las lesiones producidas por perros son causas frecuentes de visita a emergencia y hospitalización en pediatría, y tienen características particulares en niños de hasta 5 años de edad.

Introduction. The objective of this study is to describe the characteristics of dog bite injuries in children seen at a children's hospital in Bolivia. Population and methods. This was an observational, retrospective study in patients seen between 2017 and 2021. Results. A total of 769 patients were studied. Dog bite injuries accounted for 5.6% of emergency visits and 0.8% of hospitalizations. They were more frequent in children younger than 5 years (55.1%), in whom the following were observed: greater injury severity (p = 0.008), history of animal provocation (p = 0.048), known attacking animal (p < 0.036), domestic accident (p = 0.021), greater frequency of post-exposure prophylaxis with anti-rabies serum (p = 0.005), and maxillofacial area as the main region involved (p < 0.001). There were 3 deaths due to human rabies and 1 due to hypovolemic shock. Conclusion. Dog bite injuries are a frequent cause of visit to the emergency department and hospitalization in pediatrics and have specific characteristics in children younger than 5 years.

Dog bite injuries in children seen at a tertiary care hospital in Bolivia. / Lesiones ocasionadas por mordeduras de perros en niños atendidos en un hospital de tercer nivel de Bolivia.

Introduction. The objective of this study is to describe the characteristics of dog bite injuries in children seen at a children's hospital in Bolivia. Population and methods. This was an observational, retrospective study in patients seen between 2017 and 2021. Results. A total of 769 patients were studied. Dog bite injuries accounted for 5.6% of emergency visits and 0.8% of hospitalizations. They were more frequent in children younger than 5 years (55.1%), in whom the following were observed: greater injury severity (p = 0.008), history of animal provocation (p = 0.048), known attacking animal (p < 0.036), domestic accident (p = 0.021), greater frequency of post-exposure prophylaxis with anti-rabies serum (p = 0.005), and maxillofacial area as the main region involved (p < 0.001). There were 3 deaths due to human rabies and 1 due to hypovolemic shock. Conclusion. Dog bite injuries are a frequent cause of visit to the emergency department and hospitalization in pediatrics and have specific characteristics in children younger than 5 years.

Introducción. Este estudio pretende caracterizar las lesiones provocadas por perros en niños de un hospital pediátrico de Bolivia. Población y métodos. Se realizó un estudio observacional, retrospectivo, en pacientes atendidos del 2017 al 2021. Resultados. Se estudiaron 769 pacientes. Las lesiones representaron el 5,6 % de las emergencias y el 0,8 % de las internaciones. Fueron más frecuentes en niños de hasta 5 años (55,1 %), en quienes se observó mayor gravedad de las lesiones (p = 0,008), antecedente de provocación al animal (p = 0,048), un animal agresor conocido (p <0,036), el contexto doméstico del accidente (p = 0,021), mayor frecuencia de profilaxis con suero luego de la exposición (p = 0,005) y regiones afectadas principalmente maxilofaciales (p <0,001). Observamos 3 casos de mortalidad por rabia humana y 1 por shock hipovolémico. Conclusión. Las lesiones producidas por perros son causas frecuentes de visita a emergencia y hospitalización en pediatría, y tienen características particulares en niños de hasta 5 años de edad.

Seguridad y eficacia de la bioprótesis de válvula cardiaca INC en humanos / Safety and efficacy of the INC bioprosthetic heart valve in humans

Resumen Introducción: Las bioprótesis de válvulas cardiacas son el estándar de oro para el reemplazo quirúrgico de la válvula aórtica en pacientes seleccionados. Objetivo: Evaluar la seguridad y eficacia de la válvula cardiaca bioprotésica del Instituto Nacional de Cardiología (INC) en humanos. Métodos: Estudio unicéntrico que incluyó 341 pacientes que se sometieron a reemplazo valvular quirúrgico único de válvula aórtica con válvula INC. Resultados: Se realizaron 318 implantes de novo (93 %) y 23 como segunda cirugía (7 %); las puntuaciones STS fueron de 1.4 y 1.8 % y el seguimiento de 42 y 46 meses, respectivamente. No existieron diferencias en las complicaciones ni en la tasa de implantación de marcapasos. Ambos grupos mantuvieron una FEVI normal. Se observó mejoría global en la clase funcional con empeoramiento solo en dos pacientes del grupo de novo. La disfunción de la prótesis INC que ameritó reintervención quirúrgica se observó en ocho pacientes (4.65 %) del grupo de novo versus un paciente (7.69 %) con segunda cirugía. Conclusiones: La válvula cardiaca INC es eficaz y segura, se asocia a baja tasa de complicaciones y mejoría de la clase funcional durante el seguimiento a largo plazo. Se necesitan estudios prospectivos comparativos de esta válvula.

Abstract Introduction: Heart valve bioprostheses are the gold standard for aortic valve surgical replacement in selected patients. Objective: To evaluate the safety and efficacy of the of the National Institute of Cardiology (INC) bioprosthetic heart alve of the National Institute of Cardiology (INC) bioprosthetic heart valve in humans. Methods: Single-center study that ncluded 341 patients who underwent single surgical aortic valve replacement with INC heart valve. Results: 318 implants were performed de novo (93%) and 23 as redo surgery (7%); STS scores were 1.4 and 1.8%, and follow-up was for 42 and 46 months, respectively. There were no differences in clinical complications or pacemaker implantation rate. Both groups maintained a normal LVEF. Overall improvement in functional class was observed, with worsening only in two patients of the de novo group. INC prosthesis dysfunction requiring surgical reintervention was observed in eight patients (4.65%) of the de novo group vs. one patient in the redo group. Conclusions: The INC heart valve is efficacious and safe, and is associated with a The INC heart valve is efficacious and safe, and is associated with a low rate of complications and functional class improvement during long-term follow-up. Prospective, comparative studies of this valve are required.

Melatonin protects gingival mesenchymal stem cells and promotes differentiation into osteoblasts.

Melatonin (MEL) has antioxidant properties and participates in osteogenic differentiation. In periodontitis, in which increased oxidative stress and bone resorption are involved, mesenchymal stem cells derived from the gingiva (GMSCs) combined with MEL could be relevant for osteogenic regeneration. In this study, we studied the antioxidant and differentiating effect of MEL on an in vitro system of GMSCs. Primary culture of GMSCs from Wistar rats was developed to evaluate differentiation into osteoblasts with an appropriate medium with or without MEL. Marker genes of mesenchymal stem cells by real time-polymerase chain reaction, clonogenic capacity, and cell migration after wound assay were used to characterize GMSCs as mesenchymal stem cells. Alkaline phosphatase activity and the alizarin red technique were used to evaluate osteogenic activity and differentiation. MEL increased alkaline phosphatase activity and alizarin red values, promoting osteogenic differentiation. Besides this, MEL protected GMSCs in a model of cellular damage related to oxidative stress, returning viability to baseline. MEL was more effective in promoting and protecting GMSCs by the production of osteogenic cells when oxidative stress is present. This evidence supports the use of MEL as a novel bone-regenerative therapy in periodontal diseases.

Radiological Findings Increased the Successful of COVID-19 Diagnosis in Hospitalized Patients Suspected of Respiratory Viral Infection but with a Negative First SARS-CoV-2 RT-PCR Result.

SARS-CoV-2 is the etiological agent of COVID-19 and may evolve from asymptomatic disease to fatal outcomes. Real-time reverse-transcription polymerase chain reaction (RT-PCR) screening is the gold standard to diagnose severe accurate respiratory syndrome coronavirus 2 (SARS-CoV-2) infection, but this test is not 100% accurate, as false negatives can occur. We aimed to evaluate the potential false-negative results in hospitalized patients suspected of viral respiratory disease but with a negative previous SARS-CoV-2 RT-PCR and analyze variables that may increase the success of COVID-19 diagnosis in this group of patients. A total of 55 hospitalized patients suspected of viral respiratory disease but with a previous negative RT-PCR result for SARS-CoV-2 were included. All the participants had clinical findings related to COVID-19 and underwent a second SARS-CoV-2 RT-PCR. Chest-computed axial tomography (CT) was used as an auxiliary tool for COVID-19 diagnosis. After the second test, 36 patients (65.5%) were positive for SARS-CoV-2 (COVID-19 group), and 19 patients (34.5%) were negative (controls). There were differences between the groups in the platelet count and the levels of D-dimer, procalcitonin, and glucose (p < 0.05). Chest CT scans categorized as COVID-19 Reporting and Data System 5 (CO-RADS 5) were more frequent in the COVID-19 group than in the control group (91.7% vs. 52.6%; p = 0.003). CO-RADS 5 remained an independent predictor of COVID-19 diagnosis in a second SARS-CoV-2 screening (p = 0.013; odds ratio = 7.0, 95% confidence interval 1.5−32.7). In conclusion, chest CT classified as CO-RADS 5 was an independent predictor of a positive second SARS-CoV-2 RT-PCR, increasing the odds of COVID-19 diagnosis by seven times. Based on our results, in hospitalized patients with a chest CT classified as CO-RADS 5, a second SARS-CoV-2 RT-PCR test should be mandatory when the first one is negative. This approach could increase SARS-CoV-2 detection up to 65% and could allow for isolation and treatment, thus improving the patient outcome and avoiding further contagion.

Evaluation of the Potential Risk of Mortality from SARS-CoV-2 Infection in Hospitalized Patients According to the Charlson Comorbidity Index.

Background: The pandemic of COVID-19 has represented a major threat to global public health in the last century and therefore to identify predictors of mortality among COVID-19 hospitalized patients is widely justified. The aim of this study was to evaluate the possible usefulness of Charlson Comorbidity Index (CCI) as mortality predictor in patients hospitalized because COVID-19. Methods: This study was carried out in Zacatecas, Mexico, and it included 705 hospitalized patients with suspected of SARS-CoV-2 infection. Clinical data were collected, and the CCI score was calculated online using the calculator from the Sociedad Andaluza de Medicina Intensiva y Unidades Coronarias; the result was evaluated as mortality predictor among the patients with COVID-19. Results: 377 patients were positive for SARS-COV-2. Obesity increased the risk of intubation among the study population (odds ratio (OR) = 2.59; 95 CI: 1.36-4.92; p = 0.003). The CCI values were higher in patients who died because of COVID-19 complications than those observed in patients who survived (p < 0.001). Considering a CCI cutoff > 31.69, the area under the ROC curve was 0.75, with a sensitivity and a specificity of 63.6% and 87.7%, respectively. Having a CCI value > 31.69 increased the odds of death by 12.5 times among the study population (95% CI: 7.3-21.4; p < 0.001). Conclusions: The CCI is a suitable tool for the prediction of mortality in patients hospitalized for COVID-19. The presence of comorbidities in hospitalized patients with COVID-19 reflected as CCI > 31.69 increased the risk of death among the study population, so it is important to take precautionary measures in patients due to their condition and their increased vulnerability to SARS-CoV-2 infection.

Safety and efficacy of the INC bioprosthetic heart valve in humans.

INTRODUCTION: Heart valve bioprostheses are the gold standard for aortic valve surgical replacement in selected patients. OBJECTIVE: To evaluate the safety and efficacy of the National Institute of Cardiology (INC) bioprosthetic heart valve in humans. METHODS: Single-center study that included 341 patients who underwent single surgical aortic valve replacement with INC heart valve. RESULTS: 318 implants were performed de novo (93%) and 23 as redo surgery (7%); STS scores were 1.4 and 1.8%, and follow-up was for 42 and 46 months, respectively. There were no differences in clinical complications or pacemaker implantation rate. Both groups maintained a normal LVEF. Overall improvement in functional class was observed, with worsening only in two patients of the de novo group. INC prosthesis dysfunction requiring surgical reintervention was observed in eight patients (4.65%) of the de novo group vs. one patient in the redo group. CONCLUSIONS: The INC heart valve is efficacious and safe, and is associated with a low rate of complications and functional class improvement during long-term follow-up. Prospective, comparative studies of this valve are required.

INTRODUCCIÓN: Las bioprótesis de válvulas cardiacas son el estándar de oro para el reemplazo quirúrgico de la válvula aórtica en pacientes seleccionados. OBJETIVO: Evaluar la seguridad y eficacia de la válvula cardiaca bioprotésica del Instituto Nacional de Cardiología (INC) en humanos. MÉTODOS: Estudio unicéntrico que incluyó 341 pacientes que se sometieron a reemplazo valvular quirúrgico único de válvula aórtica con válvula INC. RESULTADOS: Se realizaron 318 implantes de novo (93 %) y 23 como segunda cirugía (7 %); las puntuaciones STS fueron de 1.4 y 1.8 % y el seguimiento de 42 y 46 meses, respectivamente. No existieron diferencias en las complicaciones ni en la tasa de implantación de marcapasos. Ambos grupos mantuvieron una FEVI normal. Se observó mejoría global en la clase funcional con empeoramiento solo en dos pacientes del grupo de novo. La disfunción de la prótesis INC que ameritó reintervención quirúrgica se observó en ocho pacientes (4.65 %) del grupo de novo versus un paciente (7.69 %) con segunda cirugía. CONCLUSIONES: La válvula cardiaca INC es eficaz y segura, se asocia a baja tasa de complicaciones y mejoría de la clase funcional durante el seguimiento a largo plazo. Se necesitan estudios prospectivos comparativos de esta válvula.

[Comportamiento y decisión cardiovascular en el síndrome de MASS. Reporte de un caso y revisión de la literatura]. / Cardiovascular behavior and decision in MASS syndrome. A case report and literature review

MASS syndrome (disorder of connective tissue characterized by involvement of the mitral valve, aorta, skeleton, and skin) is a rare genetic disease with a phenotype similar to that of Marfan syndrome, but with important cardiovascular differences like the absence of aortic root aneurysm and marked mitral affection. We present a case of a patient with MASS syndrome and review the limited literature addressing these differences, and we discuss the impact this information may have in decisions regarding cardiovascular surgery.

El síndrome de MASS (que afecta a: válvula mitral [M], aorta [A], piel [S, skin], sistema musculoesquelético [S, skeletal]) es una rara enfermedad genética con un fenotipo similar al del síndrome de Marfan, pero con diferencias cardiovasculares importantes, como ausencia de afección de la raíz aórtica y marcada afectación mitral. Presentamos el caso de una paciente con síndrome de MASS y revisamos la limitada literatura con respecto a estas diferencias; finalmente discutimos acerca del impacto que pudiera tener esta información con respecto a las decisiones desde el punto de vista de la cirugía cardiovascular.

Detection of selection signatures in the genome of a farmed population of anadromous rainbow trout (Oncorhynchus mykiss).

Domestication processes and artificial selection are likely to leave signatures that can be detected at a molecular level in farmed rainbow trout (Oncorhynchus mykiss). These signatures of selection are genomic regions that contain functional genetic variants conferring a higher fitness to their bearers. We genotyped 749 rainbow trout from a commercial population using a rainbow trout Axiom 57 K SNP array panel and identified putative genomic regions under selection using the pcadapt, Composite Likelihood Ratio (CLR) and Integrated Haplotype Score (iHS) methods. After applying quality-control pipelines and statistical analyses, we detected 12, 96 and 16 SNPs putatively under selection, associated with 96, 781 and 115 candidate genes, respectively. Several of these candidate genes were associated with growth, early development, reproduction, behavior and immune system traits. In addition, some of the SNPs were found in interesting regions located in autosomal inversions on Omy05 and Omy20. These findings could represent a genome-wide map of selection signatures in farmed rainbow trout and could be important in explaining domestication and selection for genetic traits of commercial interest.

Oral methylmercury intoxication aggravates cardiovascular risk factors and accelerates atherosclerosis lesion development in ApoE knockout and C57BL/6 mice.

Methylmercury (MeHg) intoxication is associated with hypertension, hypercholesterolemia, and atherosclerosis by mechanisms that are not yet fully understood. We investigated the effects of MeHg intoxication in atherosclerosis-prone (ApoE-KO) and resistant C57BL/6 mice. Mice were submitted to carotid stenosis surgery (to induce atherosclerosis faster) and received water or MeHg solution (20 mg/L) for 15 days. Tail plethysmography was performed before and after MeHg exposure. Food and MeHg solution intakes were monitored weekly. On the 15th day, mice were submitted to intravital fluorescence microscopy of mesenteric vasculature to observe in vivo leukocyte rolling and adhesion. Results showed that despite the high hair and liver Hg concentrations in the MeHg group, food and water (or MeHg solution) consumption and liver function marker levels were similar to those in controls. MeHg exposure increased total cholesterol, the atherogenic (non-HDL) fraction and systolic and diastolic blood pressure. MeHg exposure also induced inflammation, as seen by the increased rolling and adhered leukocytes in the mesenteric vasculature. Atherosclerosis lesions were more extensive in the aorta and carotid sites of MeHg-ApoE knockout mice. Surprisingly, MeHg exposure also induced atherosclerosis lesions in C57BL/6 mice, which are resistant to atherosclerosis formation. We concluded that MeHg intoxication might represent a risk for cardiovascular diseases since it accelerates atherogenesis by exacerbating several independent risk factors.

High-dimensional brain-wide functional connectivity mapping in magnetoencephalography.

BACKGROUND: Brain functional connectivity (FC) analyses based on magneto/electroencephalography (M/EEG) signals have yet to exploit the intrinsic high-dimensional information. Typically, these analyses are constrained to regions of interest to avoid the curse of dimensionality, with the latter leading to conservative hypothesis testing. NEW METHOD: We removed such constraint by estimating high-dimensional source-based M/EEG-FC using cluster-permutation statistic (CPS) and demonstrated the feasibility of this approach by identifying resting-state changes in mild cognitive impairment (MCI), a prodromal stage of Alzheimer's disease. Particularly, we proposed a unified framework for CPS analysis together with a novel neighbourhood measure to estimate more compact and neurophysiological plausible neural communication. As clusters could more confidently reveal interregional communication, we proposed and tested a cluster-strength index to demonstrate other advantages of CPS analysis. RESULTS: We found clusters of increased communication or hypersynchronization in MCI compared to healthy controls in delta (1-4 Hz) and higher-theta (6-8 Hz) bands oscillations. These mainly consisted of interactions between occipitofrontal and occipitotemporal regions in the left hemisphere, which may be critically affected in the early stages of Alzheimer's disease. CONCLUSIONS: Our approach could be important to create high-resolution FC maps from neuroimaging studies in general, allowing the multimodal analysis of neural communication across multiple spatial scales. Particularly, FC clusters more robustly represent the interregional communication by identifying dense bundles of connections that are less sensitive to inter-individual anatomical and functional variability. Overall, this approach could help to better understand neural information processing in healthy and disease conditions as needed for developing biomarker research.

Ethanol binge drinking during pregnancy and its effects on salivary glands of offspring rats: oxidative stress, morphometric changes and salivary function impairments.

OBJECTIVES: To investigate the biochemical and morphological effects of ethanol (EtOH) binge drinking during pregnancy on parotid glands (PG), submandibular glands (SMG), and saliva of offspring rats. METHODS: Pregnant Wistar rats (n = 8) were exposed to EtOH consumption (3 g/kg/day - 20 % w/v) for three consecutive days. The saliva of 40-day-old offspring rats was collected to determine amylase activity and total protein concentration. PG and SMG were collected to performe oxidative biochemistry, morphometric and immunohistochemistry analyses (Student's t-test, p < .05). RESULTS: EtOH consumption during pregnancy significantly decreased the total protein concentration and decreased amylase activity. In the PG, the EtOH group showed increased lipid peroxidation and decreased antioxidant capacity against peroxyl. In the SMG, the EtOH group showed increased lipid peroxidation and NOx metabolite levels. PG exposed to EtOH showed a decrease of acini, ducts, and total parenchymal area. SMG exposed to EtOH showed an increase in the total stromal area. The expression of CK-19 and Vimentin were found not different between groups. CONCLUSIONS: For the first time, a three-day EtOH binge-drinking protocol during pregnancy is associated with oxidative stress and morphometric alterations in the salivary glands of offspring rats and with the functional reduction of the main salivary enzyme (amylase). CLINICAL RELEVANCE: EtOH consumption during pregnancy altered the morphology and physiology of the salivary glands of offspring rats.

Intestinal Ca2+ absorption revisited: A molecular and clinical approach.

Ca2+ has an important role in the maintenance of the skeleton and is involved in the main physiological processes. Its homeostasis is controlled by the intestine, kidney, bone and parathyroid glands. The intestinal Ca2+ absorption occurs mainly via the paracellular and the transcellular pathways. The proteins involved in both ways are regulated by calcitriol and other hormones as well as dietary factors. Fibroblast growth factor 23 (FGF-23) is a strong antagonist of vitamin D action. Part of the intestinal Ca2+ movement seems to be vitamin D independent. Intestinal Ca2+ absorption changes according to different physiological conditions. It is promoted under high Ca2+ demands such as growth, pregnancy, lactation, dietary Ca2+ deficiency and high physical activity. In contrast, the intestinal Ca2+ transport decreases with aging. Oxidative stress inhibits the intestinal Ca2+ absorption whereas the antioxidants counteract the effects of prooxidants leading to the normalization of this physiological process. Several pathologies such as celiac disease, inflammatory bowel diseases, Turner syndrome and others occur with inhibition of intestinal Ca2+ absorption, some hypercalciurias show Ca2+ hyperabsorption, most of these alterations are related to the vitamin D endocrine system. Further research work should be accomplished in order not only to know more molecular details but also to detect possible therapeutic targets to ameliorate or avoid the consequences of altered intestinal Ca2+ absorption.

Whole genome re-sequencing reveals recent signatures of selection in three strains of farmed Nile tilapia (Oreochromis niloticus).

Nile tilapia belongs to the second most cultivated group of fish in the world, mainly because of its favorable characteristics for production. Genetic improvement programs and domestication process of Nile tilapia may have modified the genome through selective pressure, leaving signals that can be detected at the molecular level. In this work, signatures of selection were identified using genome-wide SNP data, by two haplotype-based (iHS and Rsb) and one FST based method. Whole-genome re-sequencing of 326 individuals from three strains (A, B and C) of farmed tilapia maintained in Brazil and Costa Rica was carried out using Illumina HiSeq 2500 technology. After applying conventional SNP-calling and quality-control filters, ~ 1.3 M high-quality SNPs were inferred and used as input for the iHS, Rsb and FST based methods. We detected several candidate genes putatively subjected to selection in each strain. A considerable number of these genes are associated with growth (e.g. NCAPG, KLF3, TBC1D1, TTN), early development (e.g. FGFR3, PFKFB3), and immunity traits (e.g. NLRC3, PIGR, MAP1S). These candidate genes represent putative genomic landmarks that could be associated to traits of biological and commercial interest in farmed Nile tilapia.