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148 results on '"Martínez-Quintana, Efrén"'

1. COVID-19–Related Thrombotic and Bleeding Events in Adults With Congenital Heart Disease

Author

Fusco, Flavia, Krasuski, Richard A., Sadeghi, Soraya, Rosenbaum, Marlon S., Lewis, Matthew J., Carazo, Matthew R., Rodriguez, Fred H., 3rd, Halpern, Dan G., Feinberg, Jodi L., Galilea, Francisca A., Baraona, Fernando, Cedars, Ari M., Ko, Jong M., Porayette, Prashob, Maldonado, Jennifer R., Frogoudaki, Alexandra A., Nir, Amiram, Chaudhry, Anisa, John, Anitha S., Karbassi, Arsha, Ganame, Javier, Hoskoppal, Arvind, Frischhertz, Benjamin P., Hendrickson, Benjamin, Rodriguez-Monserrate, Carla P., Broda, Christopher R., Tobler, Daniel, Gregg, David, Martinez-Quintana, Efrén, Yeung, Elizabeth, Krieger, Eric V., Ruperti-Repilado, Francisco J., Giannakoulas, George, Lui, George K., Ephrem, Georges, Singh, Harsimran S., Hasan, Almeneisi, Bartlett, Heather L., Lindsay, Ian, Grewal, Jasmine, Nicolarsen, Jeremy, Araujo, John J., Cramer, Jonathan W., Bouchardy, Judith, Al Najashi, Khalid, Ryan, Kristi, Alshawabkeh, Laith, Andrade, Lauren, Ladouceur, Magalie, Schwerzmann, Markus, Greutmann, Matthias, Merás, Pablo, Ferrero, Paolo, Dehghani, Payam, Tung, Poyee P., Garcia-Orta, Rocio, Tompkins, Rose, Gendi, Salwa M., Cohen, Scott, Klewer, Scott E., Hascoet, Sebastien, Upadhyay, Shailendra, Fisher, Stacy D., Cook, Stephen, Cotts, Timothy B., Kovacs, Adrienne H., Aboulhosn, Jamil A., Scognamiglio, Giancarlo, Broberg, Craig S., and Sarubbi, Berardo

Published
2023
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3. COVID-19 in Adults With Congenital Heart Disease

Author

Broberg, Craig S., Kovacs, Adrienne H., Sadeghi, Soraya, Rosenbaum, Marlon S., Lewis, Matthew J., Carazo, Matthew R., Rodriguez, Fred H., III, Halpern, Dan G., Feinberg, Jodi, Galilea, Francisca Arancibia, Baraona, Fernando, Cedars, Ari M., Ko, Jong M., Porayette, Prashob, Maldonado, Jennifer, Sarubbi, Berardo, Fusco, Flavia, Frogoudaki, Alexandra A., Nir, Amiram, Chaudhry, Anisa, John, Anitha S., Karbassi, Arsha, Hoskoppal, Arvind K., Frischhertz, Benjamin P., Hendrickson, Benjamin, Bouma, Berto J., Rodriguez-Monserrate, Carla P., Broda, Christopher R., Tobler, Daniel, Gregg, David, Martinez-Quintana, Efren, Yeung, Elizabeth, Krieger, Eric V., Ruperti-Repilado, Francisco J., Giannakoulas, George, Lui, George K., Ephrem, Georges, Singh, Harsimran S., Almeneisi, Hassan MK., Bartlett, Heather L., Lindsay, Ian, Grewal, Jasmine, Nicolarsen, Jeremy, Araujo, John J., Cramer, Jonathan W., Bouchardy, Judith, Al Najashi, Khalid, Ryan, Kristi, Alshawabkeh, Laith, Andrade, Lauren, Ladouceur, Magalie, Schwerzmann, Markus, Greutmann, Matthias, Meras, Pablo, Ferrero, Paolo, Dehghani, Payam, Tung, Poyee P., Garcia-Orta, Rocio, Tompkins, Rose O., Gendi, Salwa M., Cohen, Scott, Klewer, Scott, Hascoet, Sebastien, Mohammadzadeh, Shabnam, Upadhyay, Shailendra, Fisher, Stacy D., Cook, Stephen, Cotts, Timothy B., and Aboulhosn, Jamil A.

Published
2021
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5. A Common Variant at the 3'untranslated Region of the CCL7 Gene (rs17735770) Is Associated With Decreased Susceptibility to Coronary Heart Disease

Author

Medina-Gil, José María, primary, Pérez-García, Ana, additional, Saavedra-Santana, Pedro, additional, Díaz-Carrasco, Asunción, additional, Martínez-Quintana, Efrén, additional, Rodríguez-González, Fayna, additional, Ramírez, Cristina M., additional, Riaño, Marta, additional, Garay-Sánchez, Paloma, additional, and Tugores, Antonio, additional

Published
2022
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6. Blood test assessment of liver ultrasound findings in patients with Fontan surgery

Author

Martínez-Quintana, Efrén and Rodríguez-González, Fayna

Subjects
congenital, hereditary, and neonatal diseases and abnormalities, cardiovascular system, Original Article, cardiovascular diseases, digestive system diseases
Abstract

Hepatic complications are common in patients with Fontan surgery. The objective of this observational study is to compare demographic, clinical and blood test data in patients older than 14 years old with a Fontan procedure (cases) and asymptomatic patients with single non-operated restrictive ventricular septal defect (VSD) (controls) and to determine whether there are differences in blood collection and liver disease scores according to the liver ultrasound findings in the group of Fontan patients. The liver findings were classified as mild (normal or heterogeneous echogenicity) and significant (nodular surface, small hyperechoic nodules or hepatocarcinoma). 74 patients (14 patients with a Fontan procedure and 60 patients with a restrictive VSD) were included in the study. Median age was 18 (14-45) years old and 41 patients were males. Fontan patients had significantly lower platelet count, lower mean platelet volume (MPV) and lower glucose levels than patients with single non-operated restrictive VSD. On the contrary, Fontan patients showed higher liver enzymes [aspartate aminotransferase (AST) and alanine aminotransferase (ALT), gamma-glutamyl transferase (GGT)], N-terminal pro-brain natriuretic peptide (NT-pro-BNP) and thyroid-stimulating hormone (TSH) concentrations than patients with restrictive VSD. 4 out of 14 (29%) patients with Fontan operation and significant liver ultrasound findings showed greater number of cardiac surgeries, lower MPV values and higher GGT and TSH levels than Fontan patients with mild findings. In conclusion, Fontan patients showed higher liver enzymes (AST, ALT and GGT) than controls and Fontan patients with significant liver ultrasound findings had higher GGT and TSH concentrations than Fontan patients with mild findings.

Published
2021

7. Mental well-being among patients with congenital heart disease and heart failure during the COVID-19 pandemic

Author

Martínez-Quintana, Efrén, Vega-Acedo, Laura del Carmen, Santana-Herrera, Daniela, Pérez-Acosta, Carolina, Medina-Gil, José María, Muñoz-Díaz, Encarnación, and Rodríguez-González, Fayna

Subjects
Original Article
Abstract

Patients with congenital heart disease (CHD) show increasing survival. We evaluated the influence of COVID-19 confinement on the mental well-being of patients with CHD. Descriptive, cross-sectional, observational epidemiological study in a cohort of 242 patients with CHD over 14 years old recruited consecutively from a single adolescent and adult CHD outpatient unit. Patients were sent an online questionnaire to determine clinical, demographic and the 12-element general health questionnaire (GHQ-12) data during the COVID-19 quarantine. 242 out of 407 (59%) patients with CHD, to whom the questionnaire was sent, responded to the survey. 98 (42%) patients were between 14 and 24 years old and 133 (58%) were over 25 years old. Of the total, 119 (51%) were male. 123 (51%), 88 (36%) and 31 (13%) patients with CHD had mild, moderate, and severe anatomical complexity respectively. 11 (4.5%) out of 242 patients with CC presented heart failure (HF) symptoms, requiring 18% of them admission to the hospital emergency department during the pandemic (P=0.002). In relation to the GHQ-12 questionnaire, patients with CHD and HF enjoyed less their daily activities (81% vs. 51%, P=0.043) and had less self-confidence (46% vs. 18%, P=0.041) than those without HF symptoms. In conclusion, patients with CHD and HF, during the COVID-19 quarantine, presented a lower capacity to enjoy daily activities and self-confidence than CHD without HF symptoms.

Published
2021

9. Cardiogenic shock following blunt chest trauma

Author

Rodríguez-González Fayna and Martínez-Quintana Efrén

Subjects
Aneurysm, blunt cardiac injury, cardiac contusion, cardiac complications, echocardiography, Medical emergencies. Critical care. Intensive care. First aid, RC86-88.9
Abstract

Cardiac contusion, usually caused by blunt chest trauma, has been recognized with increased frequency over the past decades. Traffic accidents are the most frequent cause of cardiac contusions resulting from a direct blow to the chest. Other causes of blunt cardiac injury are numerous and include violent fall impacts, interpersonal aggression, explosions, and various types of high-risk sports. Myocardial contusion is difficult to diagnose; clinical presentation varies greatly, ranging from lack of symptoms to cardiogenic shock and arrhythmia. Although death is rare, cardiac contusion can be fatal. We present a case of cardiac contusion due to blunt chest trauma secondary to a fall impact, which manifested as cardiogenic shock.

Published
2010

10. Predicting sudden cardiac death in adults with congenital heart disease

Author

Oliver Ruiz, José María, Gallego, Pastora, González, Ana Elvira, Ávila, Pablo, Alonso, Andrés, García-Hamilton, Diego, Peinado, Rafael, Dos Subirá, Laura, Pijuán-Domenech, Antonia, Rueda, Joaquín, Rodríguez-Puras, María José, García-Orta, Rocío, Martínez-Quintana, Efrén, Datino, Tomas, Fernández-Avilés, Francisco, Bermejo, Javier, Oliver Ruiz, José María, Gallego, Pastora, González, Ana Elvira, Ávila, Pablo, Alonso, Andrés, García-Hamilton, Diego, Peinado, Rafael, Dos Subirá, Laura, Pijuán-Domenech, Antonia, Rueda, Joaquín, Rodríguez-Puras, María José, García-Orta, Rocío, Martínez-Quintana, Efrén, Datino, Tomas, Fernández-Avilés, Francisco, and Bermejo, Javier

Abstract

[Objectives] To develop, calibrate, test and validate a logistic regression model for accurate risk prediction of sudden cardiac death (SCD) and non-fatal sudden cardiac arrest (SCA) in adults with congenital heart disease (ACHD), based on baseline lesion-specific risk stratification and individual’s characteristics, to guide primary prevention strategies., [Methods] We combined data from a single-centre cohort of 3311 consecutive ACHD patients (50% male) at 25-year follow-up with 71 events (53 SCD and 18 non-fatal SCA) and a multicentre case–control group with 207 cases (110 SCD and 97 non-fatal SCA) and 2287 consecutive controls (50% males). Cumulative incidences of events up to 20 years for specific lesions were determined in the prospective cohort. Risk model and its 5-year risk predictions were derived by logistic regression modelling, using separate development (18 centres: 144 cases and 1501 controls) and validation (two centres: 63 cases and 786 controls) datasets., [Results] According to the combined SCD/SCA cumulative 20 years incidence, a lesion-specific stratification into four clusters—very-low (<1%), low (1%–4%), moderate (4%–12%) and high (>12%)—was built. Multivariable predictors were lesion-specific cluster, young age, male sex, unexplained syncope, ischaemic heart disease, non-life threatening ventricular arrhythmias, QRS duration and ventricular systolic dysfunction or hypertrophy. The model very accurately discriminated (C-index 0.91; 95% CI 0.88 to 0.94) and calibrated (p=0.3 for observed vs expected proportions) in the validation dataset. Compared with current guidelines approach, sensitivity increases 29% with less than 1% change in specificity., [Conclusions] Predicting the risk of SCD/SCA in ACHD can be significantly improved using a baseline lesion-specific stratification and simple clinical variables.

Published
2021

45. Novel Marfan Syndrome-Associated Mutation in the FBN1Gene Caused by Parental Mosaicism and Leading to Abnormal Limb Patterning

Author

Martínez-Quintana, Efrén, Caballero-Sánchez, Noemí, Rodríguez-González, Fayna, Garay-Sánchez, Paloma, and Tugores, Antonio

Abstract

Marfan syndrome is an autosomal dominant disorder of the connective tissue caused by mutations in the fibrillin-1 (FBN1) gene. Mutations affecting cysteine residues within the epidermal growith factor-like calcium-binding domains (EGF_CA) of FBN1 are associated with Marfan syndrome features and, especially, with ectopia lentis. We report a novel substitution, affecting the first cysteine of an EGF_CA-binding module encoded by exon 63 of FBN1(C2571Y), in a patient presenting with typical Marfan syndrome features but without ectopia lentis. The involvement of this particular carboxi-terminal domain in bone morphogenetic protein signaling is evidenced by patterning defects in the apendicular skeleton shown by the gain of a phalange at digit 1 and the fusion of some wrist bones. Although the mutation appeared as sporadic, detailed analysis revealed that the asymptomatic father was a gonosomal mosaic, and that aproximately 25% of his body cells carry the mutation. Based on this and previous evidence on the origin of sporadic mutations, we would like to stress the importance of detailed parental genetic screening, so the risk of recurrence may be evaluated.

Published
2017
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48. Valvulopatía por uso de ergotamina

Author

Martínez Quintana, Efrén, primary, Llorens León, Rafael, additional, Redondo Martínez, Elena, additional, Nieto Lago, Vicente, additional, Jiménez Cabrera, Francisco, additional, and Gross Kastanovitz, Egon, additional

Published
2005
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