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1. Edoxaban for the Long‐Term Therapy of Venous Thromboembolism: Should the Criteria for Dose Reduction be Revised?

Author

Camporese, G., Simioni, P., Di Micco, P., Fernandez-Capitan, C., Rivas, A., Font, C., Sahuquillo, J. C., Villares, P., Prandoni, P., Monreal, M., Adarraga, M. D., Agud, M., Aibar, J., Aibar, M. A., Alfonso, J., Amado, C., Arcelus, J. I., Baeza, C., Ballaz, A., Barba, R., Barbagelata, C., Barron, M., Barron-Andres, B., Blanco-Molina, A., Camon, A. M., Castro, J., Caudevilla, M. A., Cerda, P., Chasco, L., Criado, J., de Ancos, C., de Miguel, J., del Toro, J., Demelo-Rodriguez, P., Diaz-Peromingo, J. A., Diez-Sierra, J., Dominguez, I. M., Encabo, M., Escribano, J. C., Falga, C., Farfan, A. I., Fernandez de Roitegui, K., Fernandez-Reyes, J. L., Fidalgo, M. A., Flores, K., Font, L., Francisco, I., Gabara, C., Galeano-Valle, F., Garcia, M. A., Garcia-Bragado, F., Garcia-Mullor, M. M., Gavin-Blanco, O., Gavin-Sebastian, O., Gil-Diaz, A., Gomez-Cuervo, C., Gonzalez-Martinez, J., Grau, E., Guirado, L., Gutierrez, J., Hernandez-Blasco, L., Jara-Palomares, L., Jaras, M. J., Jimenez, D., Joya, M. D., Jou, I., Lacruz, B., Lalueza, A., Lecumberri, R., Lima, J., Lobo, J. L., Lopez-Brull, H., Lopez-Jimenez, L., Lopez-Miguel, P., Lopez-Nunez, J. J., Lopez-Reyes, R., Lopez-Saez, J. B., Lorente, M. A., Lorenzo, A., Loring, M., Madridano, O., Maestre, A., Marchena, P. J., Martin del Pozo, M., Martin-Martos, F., Martinez-Baquerizo, C., Mella, C., Mellado, M., Mercado, M. I., Moises, J., Morales, M. V., Munoz-Blanco, A., Munoz-Guglielmetti, D., Munoz-Rivas, N., Nart, E., Nieto, J. A., Nunez, M. J., Olivares, M. C., Ortega-Recio, M. D., Osorio, J., Otalora, S., Otero, R., Paredes, D., Parra, P., Parra, V., Pedrajas, J. M., Pellejero, G., Peris, M. L., Pesantez, D., Porras, J. A., Portillo, J., Ramos, E., Reig, L., Riera-Mestre, A., Rodriguez-Cobo, A., Rodriguez-Matute, C., Rogado, J., Rosa, V., Rubio, C. M., Ruiz-Artacho, P., Ruiz-Gimenez, N., Ruiz-Ruiz, J., Ruiz-Sada, P., Salgueiro, G., Samperiz, A., Sanchez-Munoz-Torrero, J. F., Sancho, T., Siguenza, P., Sirisi, M., Soler, S., Suarez, S. Surinach J. M., Tiberio, G., Torres, M. I., Tolosa, C., Trujillo-Santos, J., Uresandi, F., Usandizaga, E., Valle, R., Vela, J. R., Vidal, G., Vilar, C., Zamora, C., Gutierrez, P., Vazquez, F. J., Vanassche, T., Vandenbriele, C., Verhamme, P., Hirmerova, J., Maly, R., Salgado, E., Benzidia, I., Bertoletti, L., Bura-Riviere, A., Crichi, B., Debourdeau, P., Espitia, O., Farge-Bancel, D., Helfer, H., Mahe, I., Moustafa, F., Poenou, G., Schellong, S., Braester, A., Brenner, B., Tzoran, I., Amitrano, M., Bilora, F., Bortoluzzi, C., Brandolin, B., Ciammaichella, M., Colaizzo, D., Dentali, F., Giammarino, E., Grandone, E., Mangiacapra, S., Mastroiacovo, D., Maida, R., Mumoli, N., Pace, F., Pesavento, R., Pomero, F., Quintavalla, R., Rocci, A., Siniscalchi, C., Tufano, A., Visona, A., Vo Hong, N., Zalunardo, B., Make, K., Meilanden, K., Skride, A., Ferreira, M., Fonseca, S., Martins, F., Meireles, J., Bosevski, M., Zdraveska, M., Bounameaux, H., Mazzolai, L., Caprini, J. A., Tafur, A. J., Weinberg, I., Wilkins, H., Bui, H. M., and UAM. Departamento de Medicina

Subjects
Male, medicine.medical_specialty, Time Factors, Dose, Medicina, Pyridines, Hemorrhage, General Biochemistry, Genetics and Molecular Biology, Article, chemistry.chemical_compound, Edoxaban, Recurrence, Internal medicine, medicine, Humans, Prospective Studies, Registries, General Pharmacology, Toxicology and Pharmaceutics, Long term therapy, Aged, Aged, 80 and over, Dose-Response Relationship, Drug, Drug Tapering, business.industry, lcsh:Public aspects of medicine, General Neuroscience, Mortality rate, Research, lcsh:RM1-950, Hazard ratio, Anticoagulants, lcsh:RA1-1270, General Medicine, Articles, Venous Thromboembolism, Middle Aged, Confidence interval, Thiazoles, lcsh:Therapeutics. Pharmacology, chemistry, Practice Guidelines as Topic, Dose reduction, Female, business, Venous thromboembolism, Follow-Up Studies
Abstract

Edoxaban is used for venous thromboembolism (VTE) treatment. Real-life data are lacking about its use in long-term therapy. We aimed to assess the efficacy and the safety of edoxaban for long-term VTE treatment in a real-life setting. Patients with VTE included in the Registro Informatizado Enfermedad TromboEmbólica (RIETE) registry, receiving edoxaban 60 or 30 mg daily were prospectively followed up to validate the benefit of using different dosages. The main outcome was the composite of VTE recurrences or major bleeding in patients with or without criteria for dose reduction. Multivariable analysis to identify predictors for the composite outcome was performed. From October 2015 to November 2019, 562 patients received edoxaban for long-term therapy. Most (94%) of the 416 patients not meeting criteria for dose reduction received 60 mg daily, and 92 patients meeting criteria (63%) received 30 mg daily. During treatment, two patients developed recurrent VTE, six had major bleeding and nine died (2 from fatal bleeding). Among patients not meeting criteria for dose reduction, those receiving 30 mg daily had a higher rate of the composite event (hazard ratio (HR) 8.37; 95% confidence interval (CI) 1.12–42.4) and a significant higher mortality rate (HR 31.1; 95% CI 4.63–262) than those receiving 60 mg. Among patients meeting criteria for dose reduction, those receiving 60 mg daily had no events, and a nonsignificantly higher mortality rate (HR 5.04; 95% CI 0.54–133) than those receiving 30 mg daily. In conclusion, edoxaban seems to be effective and safe for long-term VTE treatment in real life. Criteria for dose reduction should be reformulated., No funding was received for this work

Published
2020

2. Real-Time Dissemination of Aggregate Data on Presentation and Outcomes of Patients With Venous Thromboembolism: The RIETE Infographics Project

Author

Tafur, A., Bikdeli, B., Weinberg, I., Jimenez, D., Monreal, A., Barba, R., Mira, E., Macrinici, V., Krumholz, H. M., Hawkins, M., Monreal, M., Adarraga, M. D., Agud, M., Aibar, J., Aibar, M. A., Alfonso, J., Amado, C., Arcelus, J. I., Baeza, C., Ballaz, A., Barbagelata, C., Barron, M., Barron-Andres, B., Blanco-Molina, A., Camon, A. M., Canas, I., Castro, J., Cerda, P., Criado, J., de Ancos, C., de Miguel, J., del Toro, J., Demelo-Rodriguez, P., Diaz-Peromingo, J. A., Diez-Sierra, J., Diaz-Simon, R., Dominguez, I. M., Encabo, M., Escribano, J. C., Falga, C., Farfan, A. I., Fernandez-Capitan, C., Fernandez-Reyes, J. L., Fidalgo, M. A., Flores, K., Font, C., Font, L., Francisco, I., Gabara, C., Galeano-Valle, F., Garcia, M. A., Garcia-Bragado, F., Garcia-Mullor, M. M., Gavin-Blanco, O., Gavin-Sebastian, O., Gil-Diaz, A., Gomez-Cuervo, C., Gonzalez-Martinez, J., Grau, E., Gutierrez, J., Hernandez-Blasco, L., Jara-Palomares, L., Jaras, M. J., Joya, M. D., Jou, I., Lacruz, B., Lecumberri, R., Lima, J., Lobo, J. L., Lopez-Brull, H., Lopez-Jimenez, L., Lopez-Miguel, P., Lopez-Nunez, J. J., Lopez-Reyes, R., Lopez-Saez, J. B., Lorente, M. A., Lorenzo, A., Loring, M., Madridano, O., Maestre, A., Marchena, P. J., Martin del Pozo, M., Martin-Guerra, J. M., Martin-Martos, F., Mella, C., Mellado, M., Mercado, M. I., Moises, J., Morales, M. V., Munoz-Blanco, A., Munoz-Guglielmetti, D., Nieto, J. A., Nunez, M. J., Olivares, M. C., Ortega-Michel, C., Ortega-Recio, M. D., Osorio, J., Otero, R., Parra, P., Parra, V., Pedrajas, J. M., Pellejero, G., Perez-Jacoiste, A., Peris, M. L., Pesantez, D., Porras, J. A., Ramos, E., Reig, L., Riera-Mestre, A., Rivas, A., Rodriguez-Cobo, A., Rodriguez-Matute, C., Rosa, V., Rubio, C. M., Ruiz-Artacho, P., Ruiz-Gimenez, N., Ruiz-Ruiz, J., Ruiz-Sada, P., Sahuquillo, J. C., Salgueiro, G., Samperiz, A., Sanchez-Munoz-Torrero, J. F., Sancho, T., Soler, S., Suarez, S., Surinach, J. M., Tiberio, G., Torres, M. I., Tolosa, C., Trujillo-Santos, J., Uresandi, F., Usandizaga, E., Valle, R., Vela, J. R., Vidal, G., Villares, P., Zamora, C., Gutierrez, P., Vazquez, F. J., Vanassche, T., Vandenbriele, C., Verhamme, P., Hirmerova, J., Maly, R., Salgado, E., Benzidia, I., Bertoletti, L., Bura-Riviere, A., Crichi, B., Debourdeau, P., Espitia, O., Farge-Bancel, D., Helfer, H., Mahe, I., Moustafa, F., Poenou, G., Schellong, S., Braester, A., Brenner, B., Tzoran, I., Amitrano, M., Bilora, F., Bortoluzzi, C., Brandolin, B., Bucherini, E., Ciammaichella, M., Colaizzo, D., Dentali, F., Di Micco, P., Giammarino, E., Grandone, E., Mangiacapra, S., Mastroiacovo, D., Maida, R., Mumoli, N., Pace, F., Pesavento, R., Pomero, F., Prandoni, P., Quintavalla, R., Rocci, A., Siniscalchi, C., Tufano, A., Visona, A., Vo Hong, N., Zalunardo, B., Gibietis, V., Kigitovica, D., Skride, A., Ferreira, M., Fonseca, S., Martins, F., Meireles, J., Bosevski, M., Zdraveska, M., Bounameaux, H., Mazzolai, L., Caprini, J. A., Tafur, A. J., Wilkins, H., Bui, H. M., Tafur, A., Bikdeli, B., Weinberg, I., Jimenez, D., Monreal, A., Barba, R., Mira, E., Macrinici, V., Krumholz, H. M., Hawkins, M., Monreal, M., Adarraga, M. D., Agud, M., Aibar, J., Aibar, M. A., Alfonso, J., Amado, C., Arcelus, J. I., Baeza, C., Ballaz, A., Barbagelata, C., Barron, M., Barron-Andres, B., Blanco-Molina, A., Camon, A. M., Canas, I., Castro, J., Cerda, P., Criado, J., de Ancos, C., de Miguel, J., del Toro, J., Demelo-Rodriguez, P., Diaz-Peromingo, J. A., Diez-Sierra, J., Diaz-Simon, R., Dominguez, I. M., Encabo, M., Escribano, J. C., Falga, C., Farfan, A. I., Fernandez-Capitan, C., Fernandez-Reyes, J. L., Fidalgo, M. A., Flores, K., Font, C., Font, L., Francisco, I., Gabara, C., Galeano-Valle, F., Garcia, M. A., Garcia-Bragado, F., Garcia-Mullor, M. M., Gavin-Blanco, O., Gavin-Sebastian, O., Gil-Diaz, A., Gomez-Cuervo, C., Gonzalez-Martinez, J., Grau, E., Gutierrez, J., Hernandez-Blasco, L., Jara-Palomares, L., Jaras, M. J., Joya, M. D., Jou, I., Lacruz, B., Lecumberri, R., Lima, J., Lobo, J. L., Lopez-Brull, H., Lopez-Jimenez, L., Lopez-Miguel, P., Lopez-Nunez, J. J., Lopez-Reyes, R., Lopez-Saez, J. B., Lorente, M. A., Lorenzo, A., Loring, M., Madridano, O., Maestre, A., Marchena, P. J., Martin del Pozo, M., Martin-Guerra, J. M., Martin-Martos, F., Mella, C., Mellado, M., Mercado, M. I., Moises, J., Morales, M. V., Munoz-Blanco, A., Munoz-Guglielmetti, D., Nieto, J. A., Nunez, M. J., Olivares, M. C., Ortega-Michel, C., Ortega-Recio, M. D., Osorio, J., Otero, R., Parra, P., Parra, V., Pedrajas, J. M., Pellejero, G., Perez-Jacoiste, A., Peris, M. L., Pesantez, D., Porras, J. A., Ramos, E., Reig, L., Riera-Mestre, A., Rivas, A., Rodriguez-Cobo, A., Rodriguez-Matute, C., Rosa, V., Rubio, C. M., Ruiz-Artacho, P., Ruiz-Gimenez, N., Ruiz-Ruiz, J., Ruiz-Sada, P., Sahuquillo, J. C., Salgueiro, G., Samperiz, A., Sanchez-Munoz-Torrero, J. F., Sancho, T., Soler, S., Suarez, S., Surinach, J. M., Tiberio, G., Torres, M. I., Tolosa, C., Trujillo-Santos, J., Uresandi, F., Usandizaga, E., Valle, R., Vela, J. R., Vidal, G., Villares, P., Zamora, C., Gutierrez, P., Vazquez, F. J., Vanassche, T., Vandenbriele, C., Verhamme, P., Hirmerova, J., Maly, R., Salgado, E., Benzidia, I., Bertoletti, L., Bura-Riviere, A., Crichi, B., Debourdeau, P., Espitia, O., Farge-Bancel, D., Helfer, H., Mahe, I., Moustafa, F., Poenou, G., Schellong, S., Braester, A., Brenner, B., Tzoran, I., Amitrano, M., Bilora, F., Bortoluzzi, C., Brandolin, B., Bucherini, E., Ciammaichella, M., Colaizzo, D., Dentali, F., Di Micco, P., Giammarino, E., Grandone, E., Mangiacapra, S., Mastroiacovo, D., Maida, R., Mumoli, N., Pace, F., Pesavento, R., Pomero, F., Prandoni, P., Quintavalla, R., Rocci, A., Siniscalchi, C., Tufano, A., Visona, A., Vo Hong, N., Zalunardo, B., Gibietis, V., Kigitovica, D., Skride, A., Ferreira, M., Fonseca, S., Martins, F., Meireles, J., Bosevski, M., Zdraveska, M., Bounameaux, H., Mazzolai, L., Caprini, J. A., Tafur, A. J., Wilkins, H., and Bui, H. M.

Subjects
Male, 0301 basic medicine, lcsh:Diseases of the circulatory (Cardiovascular) system, pulmonary embolism, Patient Empowerment, media_common.quotation_subject, 030204 cardiovascular system & hematology, Data Aggregation, 03 medical and health sciences, Presentation, 0302 clinical medicine, thrombosis, pulmonary embolism, risk assessment, Humans, Medicine, Prospective Studies, Registries, cardiovascular diseases, thrombosis, media_common, business.industry, Infographic, risk assessment, Venous Thromboembolism, Hematology, General Medicine, Precision medicine, medicine.disease, Treatment Outcome, 030104 developmental biology, lcsh:RC666-701, Female, Original Article, Aggregate data, Medical emergency, business, Risk assessment, Venous thromboembolism
Abstract

In the current era of patient empowerment and precision medicine, access to timely information is critical to decision-making. Unfortunately, we currently lack patient-specific, real-time data about clinical presentation, risk of thrombotic or hemorrhagic events, key risk factors, and adverse outcomes in patients with venous thromboembolism (VTE). Accordingly, the Registro Informatizado Enfermedad TromboEmbólica (RIETE) investigators developed a tool to provide an open-source, real-time graphic representation of VTE-related data derived from over 90 000 patients with confirmed VTE. This information is intended to facilitate discussion in the informed decision-making process. The current article describes the aims, rationale, methods, and ongoing and future efforts of the real-time VTE infographics developed by the RIETE registry collaborators.

Published
2020

3. Spanish Pompe registry: Baseline characteristics of first 49 patients with adult onset of Pompe disease

Author

Alonso-Perez, J, Segovia-Simon, S, Dominguez-Gonzalez, C, Olive-Plana, M, Mendoza-Grimon, D, Fernandez-Torron, R, Lopez-Munain, A, Munoz-Blanco, J, Ramos-Fransi, A, Almendrote, M, Illa-Sendra, I, and Diaz-Manera, J

Subjects
Adult, Family Health, Male, Delayed Diagnosis, Muscle Weakness, Adolescent, Glycogen Storage Disease Type II, Data Collection, Middle Aged, Respiration Disorders, Respiration, Artificial, Young Adult, Cross-Sectional Studies, Treatment Outcome, Spain, Humans, Female, Registries, Age of Onset, Symptom Assessment, Child, Aged, Retrospective Studies
Abstract

Pompe disease is a rare autosomal recessive disorder produced by a deficiency of acid maltase. This deficit produces an accumulation of glycogen in tissues. Clinically it is mainly characterized by limb girdle and respiratory muscle weakness. In 2013, we developed the Spanish Pompe Registry. The objective of this article was to analyse the characteristics of the first 49 patients and disclose the existence of this registry within the medical community.An observational retrospective study was undertaken. We analysed the 49 patients included in the Spanish Registry of Pompe Disease from May 2013 to October 2018.Patients were visited at 7 different Spanish hospitals. Twenty-six patients were women and 23 were men. The average age at the time of the analysis was 47.2 years. Ten patients were asymptomatic. The mean age of onset of symptoms was 29, and low limb girdle weakness was the most frequent initial symptom. Of the patients, 49% had respiratory involvement, and 70.8% of them required non-invasive mechanical ventilation. The most common mutation found was IVS1-13TG in 85.3% of the patients. All symptomatic patients received treatment with ERT.This registry allows us to know the clinical and genetic characteristics of adult patients with Pompe disease in Spain. Moreover, it can be the basis for future studies of natural history to understand the impact of ERT in the course of the disease.

Published
2020
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4. Identification of serum microRNAs as potential biomarkers in Pompe disease

Author

Carrasco-Rozas, Ana, Fernandez-Simon, Esther, Cinta Lleixa, Maria, Belmonte, Izaskun, Pedrosa-Hernandez, Irene, Montiel-Morillo, Elena, Nunez-Peralta, Claudia, Llauger Rossello, Jaume, Segovia, Sonia, De Luna, Noemi, Suarez-Calvet, Xavier, Illa, Isabel, Diaz-Manera, Jordi, Gallardo, Eduard, Angel Barba-Romero, Miguel, Barcena, Joseba, Rosario Carzorla, Marfa, Creus, Carlota, Coll-Canti, Jaume, de Luna, Noemi, Diaz, Manuel, Dominguez, Cristina, Fernandez Torron, Roberto, Garcia Antelo, Maria Jose, Maria Grau, Josep, Gomez Caravaca, Maria Teresa, Leon Hernandez, Juan Carlos, Lopez de Munain, Adolfo, Antonio Martinez-Garcia, Francisco, Morgado, Yolanda, Moreno, Antonio, Moris, German, Angel Munoz-Blanco, Miguel, Nascimento, Andres, Paradas, Carmen, Parajua Pozo, Jose Luis, Querol, Luis, Robledo-Strauss, Arturo, Rojas Garcia, Ricard, Rojas-Marcos, Inigo, Antonio Salazar, Jose, Uson, Mercedes, Pompe Spanish Study Grp, and Sanofi España

Subjects
0301 basic medicine, Spirometry, Oncology, Male, Adult, medicine.medical_specialty, Adolescent, humanos, adolescente, Neurosciences. Biological psychiatry. Neuropsychiatry, Disease, enfermedad por almacenamiento de glucógeno tipo II, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Internal medicine, microRNA, medicine, Humans, Young adult, RC346-429, perfiles de expresión génica, Research Articles, mediana edad, medicine.diagnostic_test, business.industry, Glycogen Storage Disease Type II, General Neuroscience, Gene Expression Profiling, Skeletal muscle, Middle Aged, adulto, microARN, Gene expression profiling, adulto joven, MicroRNAs, 030104 developmental biology, medicine.anatomical_structure, Potential biomarkers, Cohort, Female, Neurology (clinical), Neurology. Diseases of the nervous system, business, 030217 neurology & neurosurgery, Biomarkers, Research Article, RC321-571
Abstract

Coinvestigators – The Spanish Pompe Study Group: Miguel Angel Barba-Romero; Joseba Barcena; María Rosario Carzorla; Carlota Creus; Jaume Coll-Canti; Noemí de Luna; Manuel Díaz; Cristina Domínguez; Roberto Fernández Torrón; María José García Antelo; Josep María Grau; María Teresa Gómez Caravaca; Juan Carlos León Hernández; Adolfo López de Munain; Francisco Antonio Martinez-García; Yolanda Morgado; Antonio Moreno; Germán Morís; Miguel Angel Muñoz-Blanco; Andres Nascimento; Carmen Paradas; José Luis Parajua Pozo; Luis Querol; Arturo Robledo-Strauss; Ricard Rojas García, Ricard; Íñigo Rojas-Marcoso; José Antonio Salazar; Mercedes Usón, [Objective] To analyze the microRNA profile in serum of patients with Adult Onset Pompe disease (AOPD). [Methods] We analyzed the expression of 185 microRNAs in serum of 15 AOPD patients and five controls using microRNA PCR Panels. The expression levels of microRNAs that were deregulated were further studied in 35 AOPD patients and 10 controls using Real‐Time PCR. Additionally, the skeletal muscle expression of microRNAs which showed significant increase levels in serum samples was also studied. Correlations between microRNA serum levels and muscle function test, spirometry, and quantitative muscle MRI were performed (these data correspond to the study NCT01914536 at ClinicalTrials.gov). [Results] We identified 14 microRNAs that showed different expression levels in serum samples of AOPD patients compared to controls. We validated these results in a larger cohort of patients and we found increased levels of three microRNAs, the so called dystromirs: miR‐1‐3p, miR‐133a‐3p, and miR‐206. These microRNAs are involved in muscle regeneration and the expression of these was increased in patients' muscle biopsies. Significant correlations between microRNA levels and muscle function test were found. [Interpretation] Serum expression levels of dystromirs may represent additional biomarkers for the follow‐up of AOPD patients., This study was supported by a grant from Sanofi‐Genzyme (GZ‐2015‐11342) to Dr. Gallardo and has been registered in Clinicaltrials.gov (identifier NCT03045042).

Published
2019
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5. A case of a gunshot wound to the fetus in utero

Author

Mitchell R. Ladd, Maureen M. Gilmore, Solange N. Eloundou, Robert E. Falcone, Kathryn Shaw, Sara Munoz-Blanco, Isam W. Nasr, Sandra R. DiBrito, Dylan Stewart, and Kent A. Stevens

Subjects
Male, medicine.medical_specialty, Fetus, business.industry, Obstetrics, Critical Care and Intensive Care Medicine, medicine.disease, Surgery, Young Adult, Pregnancy, Prenatal Injuries, In utero, medicine, Humans, Female, Wounds, Gunshot, Gunshot wound, Tomography, X-Ray Computed, business
Published
2017
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6. Amifampridine phosphate (Firdapse(®)) is effective and safe in a phase 3 clinical trial in LEMS

Author

Shin J, Oh, Natalya, Shcherbakova, Anna, Kostera-Pruszczyk, Mohammad, Alsharabati, Mazen, Dimachkie, Jose Munoz, Blanco, Thomas, Brannagan, Dragana, Lavrnić, Perry B, Shieh, Christophe, Vial, Andreas, Meisel, Samuel, Komoly, Benedikt, Schoser, Kumaraswamy, Sivakumar, Yuen, So, and Sujata P, Thawani

Subjects
Adult, Aged, 80 and over, Male, Middle Aged, Phosphates, Lambert-Eaton Myasthenic Syndrome, Young Adult, Treatment Outcome, Double-Blind Method, Potassium Channel Blockers, Humans, Female, Calcium Channels, Muscle Strength, 4-Aminopyridine, Amifampridine, Aged
Abstract

We evaluated the efficacy and safety of amifampridine phosphate (Firdapse(®)) for symptomatic treatment in Lambert-Eaton myasthenic syndrome (LEMS).Phase 3, randomized, double-blind, study. Patients were treated initially with amifampridine phosphate for 7-91 days, followed by randomization to continue amifampridine phosphate for 14 days or placebo (7-day taper, 7-day placebo). The primary efficacy endpoints were changes from baseline at day 14 in Quantitative Myasthenia Gravis and Subject Global Impression scores.The coprimary efficacy end points and 1 of the secondary efficacy end points were met, showing a significant benefit of aminfampridine phosphate over placebo at Day 14. All 5 primary, secondary, and tertiary endpoints achieved statistical significance at Day 8. Amifampridine phosphate was well tolerated; the most common adverse events were oral and digital paresthesias, nausea, and headache.This study provides Class I evidence of efficacy of amifampridine phosphate as a symptomatic treatment for LEMS.

Published
2016

7. Occipital condyle syndrome guiding diagnosis to metastatic prostate cancer

Author

Juan Ignacio Martinez, Salamanca, Concepcion, Murrieta, Jose, Jara, Jose Luis, Munoz-Blanco, Federico, Alvarez, Juan Guzman, De Villoria, and Carlos, Hernandez

Subjects
Diagnosis, Differential, Male, Biopsy, Occipital Bone, Humans, Prostatic Neoplasms, Syndrome, Adenocarcinoma, Tomography, X-Ray Computed, Magnetic Resonance Imaging, Skull Base Neoplasms, Aged, Endosonography
Abstract

Occipital condyle syndrome (OCS) results from a unilateral occipital pain associated with an ipsilateral paresis of the 12th cranial nerve (hypoglossal), and is typically caused by metastasis of the skull base. OCS diagnosis occurred, in all cases described in the published literature, when metastatic prostate cancer (MPC) was previously known. We present a case of a patient whose initial manifestation of MPC was OCS. The patient was treated with complete hormonal blockade and non-steroidal anti-inflammatory drugs as opposed to locoregional radiotherapy applied in other cases. After 18 month follow-up, the patient had a complete neurological and biochemical response.

Published
2006

8. Heart Rate and Mortality in Patients With Acute Symptomatic Pulmonary Embolism

Author

G. Pellejero, Jose Gutierrez, R. Malý, M. Basaglia, L. Chasco, P. Suchon, R. Le Mao, Laurent Bertoletti, F. Martins, J. Caprini, A. Braester, F. Galeano-Valle, Hanh My Bui, J. Alonso, Y. Sato, G. Vidal, Y. Nishimoto, C. Tolosa, E. Nofuentes-Pérez, A.M. Díaz-Brasero, N. Ait Abdallah, M.D. Adarraga, R. Sánchez-Martínez, L. Font, Raquel López-Reyes, Inna Tzoran, Karine Lacut, J. del Toro, Andris Skride, Ana Jaureguizar, Joseph A. Caprini, C. Amado, R. García de la Garza, A.M. Camon, S. Merla, Luciano López-Jiménez, G. Salgueiro, Sebastian Schellong, Alfonso Muriel, F. Bilora, S. Lainez-Justo, B. Suárez-Rodríguez, Carme Font, F. Beddar Chaib, I. Francisco, C. Jiménez-Alfaro, P. Azcarate-Agüero, Maurizio Ciammaichella, J.A. Porras, N. Vo Hong, F. Martín-Martos, Dominique Farge-Bancel, D. Farge-Bancel, José Luis Lobo, M. Giménez-Suau, E. Grau, F. García-Bragado, Ángeles Blanco-Molina, Carmen Fernández-Capitán, María del Carmen Díaz-Pedroche, C. Grange, Adriana Visonà, L. Guirado, P. Villares, P. López-Miguel, José María Pedrajas, S. Accassat, Beatriz Valero, B. Crichi, Juan J. López-Núñez, Luis Jara-Palomares, G. Sarlon-Bartoli, J. Lima, C. Bortoluzzi, Alicia Lorenzo, C. de Ancos, M.A. Fidalgo, Philippe Debourdeau, Pablo Javier Marchena, C. Rodríguez-Matute, A.I. Farfán-Sedano, José Luis Fernández-Reyes, J.C. Escribano, Juan I. Arcelus, M. Barrón, I. Quere, Remedios Otero, A. De Angelis, P. Morange, Peter Verhamme, G. Kenet, P. Prandoni, Pedro Ruiz-Artacho, C. Siniscalchi, A. Zaicenko, M. Olid-Velilla, C. García-Díaz, B. Barrón-Andrés, T. Sancho, Fernando Uresandi, Javier Trujillo-Santos, A. Muñoz-Blanco, A. Villalobos, A. Dubois-Silva, J. Moisés, J. Osorio, M.I. Mercado, J.M. Suriñach, M.A. Aibar, M.D. Joya, Cihan Ay, J.A. Díaz-Peromingo, H. Bounameaux, Diego Martínez-Urbistondo, Thomas Vanassche, L. Bertoletti, Marijan Bosevski, Farès Moustafa, M. Martín del Pozo, J.F. Sánchez-Muñoz-Torrero, H.M. Bui, Ingrid Pabinger, M.C. Olivares, M. García de Herreros, M.J. Núñez-Fernández, B. Zalunardo, J.F. Varona, Stephan Nopp, Behnood Bikdeli, B. Brandolin, B. Bikdeli, Olga Madridano, Manuel Monreal, M.J. Jaras, Alessandra Bura-Rivière, Abílio Reis, J. Portillo, O. Espitia, J. Catella, Aitor Ballaz, F. Esposito, R. Barba, R. Valle, H. Helfer, I. Tzoran, J.B. López-Sáez, P. Ruiz-Artacho, M.A. García, J. Aibar, C. Gómez-Cuervo, C. Gabara, A. Latorre, J. Ruiz-Ruiz, Benjamin Brenner, S. Fonseca, S. Schellong, Raffaele Pesavento, Barry M. Brenner, Silvia Soler, Paolo Prandoni, Victor F. Tapson, Ana Maestre, Pierpaolo Di Micco, M. Muñoz, J. Criado, D. Jiménez, Antonella Tufano, G. Krstevski, B. Valero, Henri Bounameaux, M.I. Torres, G. Poenou, Isabelle Mahé, Aída Gil-Díaz, A. Asuero, S. Otalora, V. Rosa, L. Vela, E. Imbalzano, C. Vandenbriele, C. Barbagelata, Jana Hirmerova, J. Meireles, David Jiménez, Lucia Mazzolai, L. Hernández-Blasco, M. Bosevski, Gili Kenet, C. Mella, M. Monreal, J.R. Vela, P. Di Micco, Carlos Zamora, K. Flores, P. Demelo-Rodríguez, Radovan Malý, J. Birzulis, J.A. Nieto, J. Castro, M.V. Di Campli, Francis Couturaud, Raquel Barba, Jaureguizar, A., Jimenez, D., Bikdeli, B., Ruiz-Artacho, P., Muriel, A., Tapson, V., Lopez-Reyes, R., Valero, B., Kenet, G., Monreal, M., Prandoni, P., Brenner, B., Farge-Bancel, D., Barba, R., Di Micco, P., Bertoletti, L., Schellong, S., Tzoran, I., Reis, A., Bosevski, M., Bounameaux, H., Maly, R., Verhamme, P., Caprini, J. A., Bui, H. M., Adarraga, M. D., Aibar, J., Aibar, M. A., Alonso, J., Amado, C., Arcelus, J. I., Asuero, A., Azcarate-Aguero, P., Ballaz, A., Barbagelata, C., Barron, M., Barron-Andres, B., Blanco-Molina, A., Beddar Chaib, F., Camon, A. M., Castro, J., Chasco, L., Criado, J., de Ancos, C., del Toro, J., Demelo-Rodriguez, P., Diaz-Brasero, A. M., Diaz-Pedroche, M. C., Diaz-Peromingo, J. A., Di Campli, M. V., Dubois-Silva, A., Escribano, J. C., Esposito, F., Farfan-Sedano, A. I., Fernandez-Capitan, C., Fernandez-Reyes, J. L., Fidalgo, M. A., Flores, K., Font, C., Font, L., Francisco, I., Gabara, C., Galeano-Valle, F., Garcia, M. A., Garcia-Bragado, F., Garcia de Herreros, M., Garcia de la Garza, R., Garcia-Diaz, C., Gil-Diaz, A., Gomez-Cuervo, C., Gimenez-Suau, M., Grau, E., Guirado, L., Gutierrez, J., Hernandez-Blasco, L., Jara-Palomares, L., Jaras, M. J., Jimenez-Alfaro, C., Joya, M. D., Lainez-Justo, S., Latorre, A., Lima, J., Lobo, J. L., Lopez-Jimenez, L., Lopez-Miguel, P., Lopez-Nunez, J. J., Lopez-Saez, J. B., Lorenzo, A., Madridano, O., Maestre, A., Marchena, P. J., Martin del Pozo, M., Martin-Martos, F., Martinez-Urbistondo, D., Mella, C., Mercado, M. I., Moises, J., Munoz, M., Munoz-Blanco, A., Nieto, J. A., Nofuentes-Perez, E., Nunez-Fernandez, M. J., Olid-Velilla, M., Olivares, M. C., Osorio, J., Otalora, S., Otero, R., Pedrajas, J. M., Pellejero, G., Porras, J. A., Portillo, J., Rodriguez-Matute, C., Rosa, V., Ruiz-Ruiz, J., Salgueiro, G., Sanchez-Martinez, R., Sanchez-Munoz-Torrero, J. F., Sancho, T., Soler, S., Suarez-Rodriguez, B., Surinach, J. M., Torres, M. I., Tolosa, C., Trujillo-Santos, J., Uresandi, F., Valle, R., Varona, J. F., Vela, L., Vela, J. R., Vidal, G., Villalobos, A., Villares, P., Zamora, C., Ay, C., Nopp, S., Pabinger, I., Vanassche, T., Vandenbriele, C., Hirmerova, J., Accassat, S., Ait Abdallah, N., Bura-Riviere, A., Catella, J., Couturaud, F., Crichi, B., Debourdeau, P., Espitia, O., Grange, C., Helfer, H., Lacut, K., Le Mao, R., Mahe, I., Morange, P., Moustafa, F., Poenou, G., Sarlon-Bartoli, G., Suchon, P., Quere, I., Braester, A., Basaglia, M., Bilora, F., Bortoluzzi, C., Brandolin, B., Ciammaichella, M., De Angelis, A., Imbalzano, E., Merla, S., Pesavento, R., Siniscalchi, C., Tufano, A., Visona, A., Vo Hong, N., Zalunardo, B., Nishimoto, Y., Sato, Y., Birzulis, J., Skride, A., Zaicenko, A., Fonseca, S., Martins, F., Meireles, J., Krstevski, G., and Mazzolai, L.

Subjects
Male, Registrie, Pulmonary and Respiratory Medicine, medicine.medical_specialty, pulmonary embolism, Critical Care and Intensive Care Medicine, Logistic regression, Heart Rate, Internal medicine, Heart rate, medicine, In patient, Aged, Aged, 80 and over, business.industry, medicine.disease, mortality, Pulmonary embolism, Prospective Studie, Increased risk, Spain, Cardiology, Positive relationship, Female, Cardiology and Cardiovascular Medicine, business, Human
Abstract

Background: The association between heart rate (HR) and pulmonary embolism (PE) outcomes has not been well studied. Furthermore, optimal cutoffs to identify low-risk and intermediate- to high-risk patients are not well known. Research Question: Does an association exist between baseline HR and PE outcome across the continuum of HR values? Study Design and Methods: The current study included 44,331 consecutive nonhypotensive patients with symptomatic PE from the Registro Informatizado de la Enfermedad TromboEmbólica registry between 2001 and 2021. Outcomes included 30-day all-cause and PE-specific mortality. We used hierarchical logistic regression to assess the association between admission HR and outcomes. Results: A positive relationship was found between admission HR and 30-day all-cause and PE-related mortality. Considering an HR of 80 to 99 beats/min as a reference, patients in the higher HR strata showed higher rates of all-cause death (adjusted OR, 1.5 for HR of 100-109 beats/min; adjusted OR, 1.7 for HR of 110-119 beats/min; adjusted OR, 1.9 for HR of 120-139 beats/min; and adjusted OR, 2.4 for HR of ≥ 140 beats/min). Patients in the lower strata of HR showed significantly lower rates of 30-day all-cause mortality compared with the same reference group (adjusted OR, 0.6 for HR of 60-79 beats/min; and adjusted OR, 0.5 for HR of < 60 beats/min). The findings for 30-day PE-related mortality were similar. For identification of low-risk patients, a cutoff value of 80 beats/min (vs 110 beats/min) increased the sensitivity of the simplified Pulmonary Embolism Severity Index (sPESI) from 93.4% to 98.8%. For identification of intermediate- to high-risk patients, a cutoff value of 140 beats/min (vs 110 beats/min) increased the specificity of the Bova score from 93.2% to 98.0%. Interpretation: In nonhypotensive patients with acute symptomatic PE, a high HR portends an increased risk of all-cause and PE-related mortality. Modifying the HR cutoff in the sPESI and the Bova score improves prognostication of patients with PE.

Published
2022
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9. Timing and characteristics of venous thromboembolism after noncancer surgery

Author

Manuela Expósito-Ruiz, Juan Ignacio Arcelus, Joseph A. Caprini, Cristina López-Espada, Alessandra Bura-Riviere, Cristina Amado, Mónica Loring, Daniela Mastroiacovo, Manuel Monreal, Paolo Prandoni, Benjamin Brenner, Dominique Farge-Bancel, Raquel Barba, Pierpaolo Di Micco, Laurent Bertoletti, Sebastian Schellong, Inna Tzoran, Abilio Reis, Marijan Bosevski, Henri Bounameaux, Radovan Malý, Peter Verhamme, Hanh My Bui, M.D. Adarraga, M. Agud, J. Aibar, M.A. Aibar, C. Amado, J.I. Arcelus, C. Baeza, A. Ballaz, R. Barba, C. Barbagelata, M. Barrón, B. Barrón-Andrés, A. Blanco-Molina, E. Botella, A.M. Camon, S. Campos, I. Cañas, I. Casado, J. Castro, J. Criado, C. de Ancos, J. de Miguel, J. del Toro, P. Demelo-Rodríguez, C. Díaz-Pedroche, J.A. Díaz-Peromingo, J. Díez-Sierra, I.M. Domínguez, J.C. Escribano, C. Falgá, A.I. Farfán, K. Fernández de Roitegui, C. Fernández-Aracil, C. Fernández-Capitán, J.L. Fernández-Reyes, M.A. Fidalgo, K. Flores, C. Font, L. Font, I. Francisco, I. Furest, C. Gabara, F. Galeano-Valle, M.A. García, F. García-Bragado, R. García-Hernáez, A. García-Raso, O. Gavín-Sebastián, A. Gil-Díaz, C. Gómez-Cuervo, J. González-Martínez, E. Grau, M. Giménez-Suau, L. Guirado, J. Gutiérrez, L. Hernández-Blasco, E. Hernando, M. Herreros, L. Jara-Palomares, M.J. Jaras, D. Jiménez, R. Jiménez, M.D. Joya, I. Jou, A. Lalueza, R. Lecumberri, J. Lima, P. Llamas, J.L. Lobo, L. López-Jiménez, P. López-Miguel, J.J. López-Núñez, R. López-Reyes, J.B. López-Sáez, A. Lorenzo, M. Loring, O. Madridano, A. Maestre, P.J. Marchena, M. Martín del Pozo, F. Martín-Martos, C. Mella, M. Mellado, M.I. Mercado, J. Moisés, M. Monreal, M.V. Morales, A. Muñoz-Blanco, D. Muñoz-Guglielmetti, N. Muñoz-Rivas, J.A. Nieto, A. Núñez-Ares, M.J. Núñez-Fernández, B. Obispo, M.C. Olivares, J.L. Orcastegui, M.D. Ortega-Recio, J. Osorio, S. Otalora, R. Otero, D. Paredes, P. Parra, V. Parra, J.M. Pedrajas, G. Pellejero, D. Pesántez, J.A. Porras, J. Portillo, A. Riera-Mestre, A. Rivas, F. Rivera, A. Rodríguez-Cobo, C. Rodríguez-Matute, J. Rogado, V. Rosa, C.M. Rubio, P. Ruiz-Artacho, N. Ruiz-Giménez, J. Ruiz-Ruiz, P. Ruiz-Sada, J.C. Sahuquillo, G. Salgueiro, A. Sampériz, J.F. Sánchez-Muñoz-Torrero, T. Sancho, P. Sigüenza, S. Soler, J.M. Suriñach, M.I. Torres, C. Tolosa, J. Trujillo-Santos, F. Uresandi, R. Valle, J.R. Vela, G. Vidal, P. Villares, C. Zamora, P. Gutiérrez, F.J. Vázquez, T. Vanassche, C. Vandenbriele, P. Verhamme, J. Hirmerova, R. Malý, I. Benzidia, L. Bertoletti, A. Bura-Riviere, B. Crichi, P. Debourdeau, O. Espitia, D. Farge-Bancel, H. Helfer, I. Mahé, F. Moustafa, G. Poenou, S. Schellong, A. Braester, B. Brenner, I. Tzoran, F. Bilora, B. Brandolin, E. Bucherini, M. Ciammaichella, D. Colaizzo, P. Di Micco, E. Grandone, D. Marchi, D. Mastroiacovo, R. Maida, F. Pace, R. Pesavento, P. Prandoni, R. Quintavalla, N. Rinzivillo, A. Rocci, C. Siniscalchi, A. Tufano, A. Visonà, B. Zalunardo, V. Gibietis, D. Kigitovica, A. Skride, M. Ferreira, S. Fonseca, F. Martins, J. Meireles, M. Bosevski, G. Krstevski, H. Bounameaux, L. Mazzolai, J.A. Caprini, A.J. Tafur, I. Weinberg, H. Wilkins, H.M. Bui, Exposito-Ruiz, M., Arcelus, J. I., Caprini, J. A., Lopez-Espada, C., Bura-Riviere, A., Amado, C., Loring, M., Mastroiacovo, D., Monreal, M., Prandoni, P., Brenner, B., Farge-Bancel, D., Barba, R., Di Micco, P., Bertoletti, L., Schellong, S., Tzoran, I., Reis, A., Bosevski, M., Bounameaux, H., Maly, R., Verhamme, P., Bui, H. M., Adarraga, M. D., Agud, M., Aibar, J., Aibar, M. A., Baeza, C., Ballaz, A., Barbagelata, C., Barron, M., Barron-Andres, B., Blanco-Molina, A., Botella, E., Camon, A. M., Campos, S., Canas, I., Casado, I., Castro, J., Criado, J., de Ancos, C., de Miguel, J., Toro, J. D., Demelo-Rodriguez, P., Diaz-Pedroche, C., Diaz-Peromingo, J. A., Diez-Sierra, J., Dominguez, I. M., Escribano, J. C., Falga, C., Farfan, A. I., Fernandez de Roitegui, K., Fernandez-Aracil, C., Fernandez-Capitan, C., Fernandez-Reyes, J. L., Fidalgo, M. A., Flores, K., Font, C., Font, L., Francisco, I., Furest, I., Gabara, C., Galeano-Valle, F., Garcia, M. A., Garcia-Bragado, F., Garcia-Hernaez, R., Garcia-Raso, A., Gavin-Sebastian, O., Gil-Diaz, A., Gomez-Cuervo, C., Gonzalez-Martinez, J., Grau, E., Gimenez-Suau, M., Guirado, L., Gutierrez, J., Hernandez-Blasco, L., Hernando, E., Herreros, M., Jara-Palomares, L., Jaras, M. J., Jimenez, D., Jimenez, R., Joya, M. D., Jou, I., Lalueza, A., Lecumberri, R., Lima, J., Llamas, P., Lobo, J. L., Lopez-Jimenez, L., Lopez-Miguel, P., Lopez-Nunez, J. J., Lopez-Reyes, R., Lopez-Saez, J. B., Lorenzo, A., Madridano, O., Maestre, A., Marchena, P. J., Martin del Pozo, M., Martin-Martos, F., Mella, C., Mellado, M., Mercado, M. I., Moises, J., Morales, M. V., Munoz-Blanco, A., Munoz-Guglielmetti, D., Munoz-Rivas, N., Nieto, J. A., Nunez-Ares, A., Nunez-Fernandez, M. J., Obispo, B., Olivares, M. C., Orcastegui, J. L., Ortega-Recio, M. D., Osorio, J., Otalora, S., Otero, R., Paredes, D., Parra, P., Parra, V., Pedrajas, J. M., Pellejero, G., Pesantez, D., Porras, J. A., Portillo, J., Riera-Mestre, A., Rivas, A., Rivera, F., Rodriguez-Cobo, A., Rodriguez-Matute, C., Rogado, J., Rosa, V., Rubio, C. M., Ruiz-Artacho, P., Ruiz-Gimenez, N., Ruiz-Ruiz, J., Ruiz-Sada, P., Sahuquillo, J. C., Salgueiro, G., Samperiz, A., Sanchez-Munoz-Torrero, J. F., Sancho, T., Siguenza, P., Soler, S., Surinach, J. M., Torres, M. I., Tolosa, C., Trujillo-Santos, J., Uresandi, F., Valle, R., Vela, J. R., Vidal, G., Villares, P., Zamora, C., Gutierrez, P., Vazquez, F. J., Vanassche, T., Vandenbriele, C., Hirmerova, J., Benzidia, I., Crichi, B., Debourdeau, P., Espitia, O., Helfer, H., Mahe, I., Moustafa, F., Poenou, G., Braester, A., Bilora, F., Brandolin, B., Bucherini, E., Ciammaichella, M., Colaizzo, D., Grandone, E., Marchi, D., Maida, R., Pace, F., Pesavento, R., Quintavalla, R., Rinzivillo, N., Rocci, A., Siniscalchi, C., Tufano, A., Visona, A., Zalunardo, B., Gibietis, V., Kigitovica, D., Skride, A., Ferreira, M., Fonseca, S., Martins, F., Meireles, J., Krstevski, G., Mazzolai, L., Tafur, A. J., Weinberg, I., and Wilkins, H.

Subjects
Adult, Male, Registrie, medicine.medical_specialty, Time Factors, Time Factor, Duration of risk, 030204 cardiovascular system & hematology, Drug Administration Schedule, 03 medical and health sciences, Postoperative Complications, 0302 clinical medicine, Risk Factors, Deep vein thrombosi, Interquartile range, medicine, Humans, Registries, cardiovascular diseases, 030212 general & internal medicine, Aged, Venous Thrombosis, Benign disease, business.industry, Risk Factor, Incidence (epidemiology), Pulmonary embolism, Anticoagulant, Anticoagulants, Venous Thromboembolism, Heparin, Low-Molecular-Weight, Middle Aged, equipment and supplies, medicine.disease, Thrombosis, Surgery, Time course, Thromboprophylaxi, Female, Postoperative Complication, Cardiology and Cardiovascular Medicine, business, Venous thromboembolism, Human, Surgical patients
Abstract

Background Venous thromboembolism (VTE) is a major cause of morbidity and mortality postoperatively. The use of pharmacologic prophylaxis is effective in reducing the incidence of VTE. However, the prophylaxis is often discontinued at hospital discharge, especially for those with benign disease. The implications of this practice are not known. We assessed the data from a large, ongoing registry regarding the time course of VTE and outcomes after noncancer surgery. Methods We analyzed the RIETE (Computerized Registry on Venous Thromboembolism) registry, which includes data from consecutive patients with symptomatic confirmed VTE. In the present study, we focused on general surgical patients who had developed symptomatic postoperative VTE in the first 8 weeks after noncancer surgery. The main objective was to assess the interval between surgery and the occurrence of VTE. Additional variables included the clinical presentation associated with the event, the use of thrombosis prophylaxis, and unfavorable outcomes. Results The data from 3296 patients were analyzed. The median time from surgery to the detection of VTE was 16 days (interquartile range, 8-30 days). Of the VTE events, 77% were detected after the first postoperative week and 27% after 4 weeks. Overall, 43.9% of the patients with VTE had received pharmacologic prophylaxis after surgery for a median of 8 days (interquartile range, 5-14 days), and three quarters of the VTE events were detected after pharmacologic prophylaxis had been discontinued. Overall, 54% of the patients with VTE had presented with pulmonary embolism. For 15% of the patients, the clinical outcome was unfavorable, including 4% who had died within 90 days. Conclusions The risk of VTE after noncancer general surgery remains high for ≤2 months. More than one half of the patients had presented with symptomatic PE as the VTE event, and 15% had had unfavorable outcomes. Only 44% of these patients had received pharmacologic prophylaxis for around 1 week.

Published
2021
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10. Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

Author

Aude Nicolas, Kevin P. Kenna, Alan E. Renton, Nicola Ticozzi, Faraz Faghri, Ruth Chia, Janice A. Dominov, Brendan J. Kenna, Mike A. Nalls, Pamela Keagle, Alberto M. Rivera, Wouter van Rheenen, Natalie A. Murphy, Joke J.F.A. van Vugt, Joshua T. Geiger, Rick A. Van der Spek, Hannah A. Pliner, null Shankaracharya, Bradley N. Smith, Giuseppe Marangi, Simon D. Topp, Yevgeniya Abramzon, Athina Soragia Gkazi, John D. Eicher, Aoife Kenna, Gabriele Mora, Andrea Calvo, Letizia Mazzini, Nilo Riva, Jessica Mandrioli, Claudia Caponnetto, Stefania Battistini, Paolo Volanti, Vincenzo La Bella, Francesca L. Conforti, Giuseppe Borghero, Sonia Messina, Isabella L. Simone, Francesca Trojsi, Fabrizio Salvi, Francesco O. Logullo, Sandra D’Alfonso, Lucia Corrado, Margherita Capasso, Luigi Ferrucci, Cristiane de Araujo Martins Moreno, Sitharthan Kamalakaran, David B. Goldstein, Aaron D. Gitler, Tim Harris, Richard M. Myers, Hemali Phatnani, Rajeeva Lochan Musunuri, Uday Shankar Evani, Avinash Abhyankar, Michael C. Zody, Julia Kaye, Steven Finkbeiner, Stacia K. Wyman, Alex LeNail, Leandro Lima, Ernest Fraenkel, Clive N. Svendsen, Leslie M. Thompson, Jennifer E. Van Eyk, James D. Berry, Timothy M. Miller, Stephen J. Kolb, Merit Cudkowicz, Emily Baxi, Michael Benatar, J. Paul Taylor, Evadnie Rampersaud, Gang Wu, Joanne Wuu, Giuseppe Lauria, Federico Verde, Isabella Fogh, Cinzia Tiloca, Giacomo P. Comi, Gianni Sorarù, Cristina Cereda, Philippe Corcia, Hannu Laaksovirta, Liisa Myllykangas, Lilja Jansson, Miko Valori, John Ealing, Hisham Hamdalla, Sara Rollinson, Stuart Pickering-Brown, Richard W. Orrell, Katie C. Sidle, Andrea Malaspina, John Hardy, Andrew B. Singleton, Janel O. Johnson, Sampath Arepalli, Peter C. Sapp, Diane McKenna-Yasek, Meraida Polak, Seneshaw Asress, Safa Al-Sarraj, Andrew King, Claire Troakes, Caroline Vance, Jacqueline de Belleroche, Frank Baas, Anneloor L.M.A. ten Asbroek, José Luis Muñoz-Blanco, Dena G. Hernandez, Jinhui Ding, J. Raphael Gibbs, Sonja W. Scholz, Mary Kay Floeter, Roy H. Campbell, Francesco Landi, Robert Bowser, Stefan M. Pulst, John M. Ravits, Daniel J.L. MacGowan, Janine Kirby, Erik P. Pioro, Roger Pamphlett, James Broach, Glenn Gerhard, Travis L. Dunckley, Christopher B. Brady, Neil W. Kowall, Juan C. Troncoso, Isabelle Le Ber, Kevin Mouzat, Serge Lumbroso, Terry D. Heiman-Patterson, Freya Kamel, Ludo Van Den Bosch, Robert H. Baloh, Tim M. Strom, Thomas Meitinger, Aleksey Shatunov, Kristel R. Van Eijk, Mamede de Carvalho, Maarten Kooyman, Bas Middelkoop, Matthieu Moisse, Russell L. McLaughlin, Michael A. Van Es, Markus Weber, Kevin B. Boylan, Marka Van Blitterswijk, Rosa Rademakers, Karen E. Morrison, A. Nazli Basak, Jesús S. Mora, Vivian E. Drory, Pamela J. Shaw, Martin R. Turner, Kevin Talbot, Orla Hardiman, Kelly L. Williams, Jennifer A. Fifita, Garth A. Nicholson, Ian P. Blair, Guy A. Rouleau, Jesús Esteban-Pérez, Alberto García-Redondo, Ammar Al-Chalabi, Ekaterina Rogaeva, Lorne Zinman, Lyle W. Ostrow, Nicholas J. Maragakis, Jeffrey D. Rothstein, Zachary Simmons, Johnathan Cooper-Knock, Alexis Brice, Stephen A. Goutman, Eva L. Feldman, Summer B. Gibson, Franco Taroni, Antonia Ratti, Cinzia Gellera, Philip Van Damme, Wim Robberecht, Pietro Fratta, Mario Sabatelli, Christian Lunetta, Albert C. Ludolph, Peter M. Andersen, Jochen H. Weishaupt, William Camu, John Q. Trojanowski, Vivianna M. Van Deerlin, Robert H. Brown, Leonard H. van den Berg, Jan H. Veldink, Matthew B. Harms, Jonathan D. Glass, David J. Stone, Pentti Tienari, Vincenzo Silani, Adriano Chiò, Christopher E. Shaw, Bryan J. Traynor, John E. Landers, Isabella Simone, Giancarlo Logroscino, Ilaria Bartolomei, Maria Rita Murru, Emanuela Costantino, Carla Pani, Roberta Puddu, Carla Caredda, Valeria Piras, Stefania Tranquilli, Stefania Cuccu, Daniela Corongiu, Maurizio Melis, Antonio Milia, Francesco Marrosu, Maria Giovanna Marrosu, Gianluca Floris, Antonino Cannas, Gianluigi Mancardi, Paola Origone, Paola Mandich, Sebastiano Cavallaro, Kalliopi Marinou, Riccardo Sideri, Silvana Penco, Lorena Mosca, Giuseppe Lauria Pinter, Massimo Corbo, Paola Carrera, Nicola Fini, Antonio Fasano, Lucio Tremolizzo, Alessandro Arosio, Carlo Ferrarese, Gioacchino Tedeschi, Maria Rosaria Monsurrò, Giovanni Piccirillo, Cinzia Femiano, Anna Ticca, Enzo Ortu, Rossella Spataro, Tiziana Colletti, Marcella Zollino, Amelia Conte, Marco Luigetti, Serena Lattante, Marialuisa Santarelli, Antonio Petrucci, Maura Pugliatti, Angelo Pirisi, Leslie D. Parish, Patrizia Occhineri, Fabio Giannini, Claudia Ricci, Michele Benigni, Tea B. Cau, Daniela Loi, Cristina Moglia, Maura Brunetti, Marco Barberis, Gabriella Restagno, Federico Casale, Giuseppe Marrali, Giuseppe Fuda, Irene Ossola, Stefania Cammarosano, Antonio Canosa, Antonio Ilardi, Umberto Manera, Maurizio Grassano, Raffaella Tanel, Fabrizio Pisano, Neil A. Shneider, Stephen Goutman, Siddharthan Chandran, Suvankar Pal, George Manousakis, Stanley H. Appel, Ericka Simpson, Leo Wang, Summer Gibson, Richard Bedlack, David Lacomis, Dhruv Sareen, Alexander Sherman, Lucie Bruijn, Michelle Penny, Andrew S. Allen, Stanley Appel, Richard S. Bedlack, Braden E. Boone, Robert Brown, John P. Carulli, Alessandra Chesi, Wendy K. Chung, Elizabeth T. Cirulli, Gregory M. Cooper, Julien Couthouis, Aaron G. Day-Williams, Patrick A. Dion, Yujun Han, Sebastian D. Hayes, Angela L. Jones, Jonathan Keebler, Brian J. Krueger, Brittany N. Lasseigne, Shawn E. Levy, Yi-Fan Lu, Tom Maniatis, Slavé Petrovski, Alya R. Raphael, Zhong Ren, Katherine B. Sims, John F. Staropoli, Lindsay L. Waite, Quanli Wang, Jack R. Wimbish, Winnie W. Xin, Justin Kwan, James R. Broach, Ximena Arcila-Londono, Edward B. Lee, Noah Zaitlen, Gregory A. Cox, Steve Finkbeiner, Efthimios Dardiotis, Eran Hornstein, Daniel J. MacGowan, Terry Heiman-Patterson, Molly G. Hammell, Nikolaos A. Patsopoulos, Joshua Dubnau, Avindra Nath, Stacia Wyman, Alexander LeNail, Jenny Van Eyk, Stephan Züchner, Rebecca Schule, Jacob McCauley, Sumaira Hussain, Anne Cooley, Marielle Wallace, Christine Clayman, Richard Barohn, Jeffrey Statland, John Ravits, Andrea Swenson, Carlayne Jackson, Jaya Trivedi, Shaida Khan, Jonathan Katz, Liberty Jenkins, Ted Burns, Kelly Gwathmey, James Caress, Corey McMillan, Lauren Elman, Erik Pioro, Jeannine Heckmann, Yuen So, David Walk, Samuel Maiser, Jinghui Zhang, Fabiola De Marchi, Stefania Corti, Mauro Ceroni, Gabriele Siciliano, Massimiliano Filosto, Maurizio Inghilleri, Silvia Peverelli, Claudia Colombrita, Barbara Poletti, Luca Maderna, Roberto Del Bo, Stella Gagliardi, Giorgia Querin, Cinzia Bertolin, Viviana Pensato, Barbara Castellotti, Vincent Meininger, Gérard Besson, Emmeline Lagrange, Pierre Clavelou, Nathalie Guy, Philippe Couratier, Patrick Vourch, Véronique Danel, Emilien Bernard, Gwendal Lemasson, Ahmad Al Kheifat, Peter Andersen, Adriano Chio, Jonathan Cooper-Knock, Annelot Dekker, Vivian Drory, Alberto Garcia Redondo, Marc Gotkine, Winston Hide, Alfredo Iacoangeli, Jonathan Glass, Kevin Kenna, Matthew Kiernan, John Landers, Russell McLaughlin, Jonathan Mill, Miguel Mitne Neto, Mattieu Moisse, Jesus Mora Pardina, Karen Morrison, Stephen Newhouse, Susana Pinto, Sara Pulit, Pamela Shaw, Chris Shaw, William Sproviero, Gijs Tazelaar, Philip van Damme, Leonard van den Berg, Rick van der Spek, Kristel van Eijk, Michael van Es, Joke van Vugt, Jan Veldink, Mayana Zatz, Denis C. Bauer, Natalie A. Twine, Department of Neurosciences, Pentti Tienari / Principal Investigator, Neurologian yksikkö, Research Programs Unit, Clinicum, Research Programme for Molecular Neurology, University of Helsinki, Medicum, Department of Pathology, HUS Neurocenter, Nicolas A., Kenna K.P., Renton A.E., Ticozzi N., Faghri F., Chia R., Dominov J.A., Kenna B.J., Nalls M.A., Keagle P., Rivera A.M., van Rheenen W., Murphy N.A., van Vugt J.J.F.A., Geiger J.T., Van der Spek R.A., Pliner H.A., Shankaracharya, Smith B.N., Marangi G., Topp S.D., Abramzon Y., Gkazi A.S., Eicher J.D., Kenna A., Logullo F.O., Simone I.L., Logroscino G., Salvi F., Bartolomei I., Borghero G., Murru M.R., Costantino E., Pani C., Puddu R., Caredda C., Piras V., Tranquilli S., Cuccu S., Corongiu D., Melis M., Milia A., Marrosu F., Marrosu M.G., Floris G., Cannas A., Capasso M., Caponnetto C., Mancardi G., Origone P., Mandich P., Conforti F.L., Cavallaro S., Mora G., Marinou K., Sideri R., Penco S., Mosca L., Lunetta C., Pinter G.L., Corbo M., Riva N., Carrera P., Volanti P., Mandrioli J., Fini N., Fasano A., Tremolizzo L., Arosio A., Ferrarese C., Trojsi F., Tedeschi G., Monsurro M.R., Piccirillo G., Femiano C., Ticca A., Ortu E., La Bella V., Spataro R., Colletti T., Sabatelli M., Zollino M., Conte A., Luigetti M., Lattante S., Santarelli M., Petrucci A., Pugliatti M., Pirisi A., Parish L.D., Occhineri P., Giannini F., Battistini S., Ricci C., Benigni M., Cau T.B., Loi D., Calvo A., Moglia C., Brunetti M., Barberis M., Restagno G., Casale F., Marrali G., Fuda G., Ossola I., Cammarosano S., Canosa A., Ilardi A., Manera U., Grassano M., Tanel R., Pisano F., Mazzini L., Messina S., D'Alfonso S., Corrado L., Ferrucci L., Harms M.B., Goldstein D.B., Shneider N.A., Goutman S.A., Simmons Z., Miller T.M., Chandran S., Pal S., Manousakis G., Appel S.H., Simpson E., Wang L., Baloh R.H., Gibson S.B., Bedlack R., Lacomis D., Sareen D., Sherman A., Bruijn L., Penny M., Moreno C.D.A.M., Kamalakaran S., Allen A.S., Boone B.E., Brown R.H., Carulli J.P., Chesi A., Chung W.K., Cirulli E.T., Cooper G.M., Couthouis J., Day-Williams A.G., Dion P.A., Gitler A.D., Glass J.D., Han Y., Harris T., Hayes S.D., Jones A.L., Keebler J., Krueger B.J., Lasseigne B.N., Levy S.E., Lu Y.-F., Maniatis T., McKenna-Yasek D., Myers R.M., Petrovski S., Pulst S.M., Raphael A.R., Ravits J.M., Ren Z., Rouleau G.A., Sapp P.C., Sims K.B., Staropoli J.F., Waite L.L., Wang Q., Wimbish J.R., Xin W.W., Phatnani H., Kwan J., Broach J., Arcila-Londono X., Lee E.B., Van Deerlin V.M., Fraenkel E., Ostrow L.W., Baas F., Zaitlen N., Berry J.D., Malaspina A., Fratta P., Cox G.A., Thompson L.M., Finkbeiner S., Dardiotis E., Hornstein E., MacGowan D.J.L., Heiman-Patterson T., Hammell M.G., Patsopoulos N.A., Dubnau J., Nath A., Musunuri R.L., Evani U.S., Abhyankar A., Zody M.C., Kaye J., Wyman S.K., LeNail A., Lima L., Rothstein J.D., Svendsen C.N., Van Eyk J.E., Maragakis N.J., Kolb S.J., Cudkowicz M., Baxi E., Benatar M., Taylor J.P., Wu G., Rampersaud E., Wuu J., Rademakers R., Zuchner S., Schule R., McCauley J., Hussain S., Cooley A., Wallace M., Clayman C., Barohn R., Statland J., Swenson A., Jackson C., Trivedi J., Khan S., Katz J., Jenkins L., Burns T., Gwathmey K., Caress J., McMillan C., Elman L., Pioro E.P., Heckmann J., So Y., Walk D., Maiser S., Zhang J., Silani V., Gellera C., Ratti A., Taroni F., Lauria G., Verde F., Fogh I., Tiloca C., Comi G.P., Soraru G., Cereda C., De Marchi F., Corti S., Ceroni M., Siciliano G., Filosto M., Inghilleri M., Peverelli S., Colombrita C., Poletti B., Maderna L., Del Bo R., Gagliardi S., Querin G., Bertolin C., Pensato V., Castellotti B., Camu W., Mouzat K., Lumbroso S., Corcia P., Meininger V., Besson G., Lagrange E., Clavelou P., Guy N., Couratier P., Vourch P., Danel V., Bernard E., Lemasson G., Laaksovirta H., Myllykangas L., Jansson L., Valori M., Ealing J., Hamdalla H., Rollinson S., Pickering-Brown S., Orrell R.W., Sidle K.C., Hardy J., Singleton A.B., Johnson J.O., Arepalli S., Polak M., Asress S., Al-Sarraj S., King A., Troakes C., Vance C., de Belleroche J., ten Asbroek A.L.M.A., Munoz-Blanco J.L., Hernandez D.G., Ding J., Gibbs J.R., Scholz S.W., Floeter M.K., Campbell R.H., Landi F., Bowser R., Kirby J., Pamphlett R., Gerhard G., Dunckley T.L., Brady C.B., Kowall N.W., Troncoso J.C., Le Ber I., Heiman-Patterson T.D., Kamel F., Van Den Bosch L., Strom T.M., Meitinger T., Shatunov A., Van Eijk K.R., de Carvalho M., Kooyman M., Middelkoop B., Moisse M., McLaughlin R.L., Van Es M.A., Weber M., Boylan K.B., Van Blitterswijk M., Morrison K.E., Basak A.N., Mora J.S., Drory V.E., Shaw P.J., Turner M.R., Talbot K., Hardiman O., Williams K.L., Fifita J.A., Nicholson G.A., Blair I.P., Esteban-Perez J., Garcia-Redondo A., Al-Chalabi A., Al Kheifat A., Andersen P.M., Chio A., Cooper-Knock J., Dekker A., Redondo A.G., Gotkine M., Hide W., Iacoangeli A., Kiernan M., Landers J.E., Mill J., Neto M.M., Pardina J.M., Newhouse S., Pinto S., Pulit S., Robberecht W., Shaw C., Sproviero W., Tazelaar G., Van Damme P., van den Berg L.H., van Vugt J., Veldink J.H., Zatz M., Bauer D.C., Twine N.A., Rogaeva E., Zinman L., Brice A., Feldman E.L., Ludolph A.C., Weishaupt J.H., Trojanowski J.Q., Stone D.J., Tienari P., Shaw C.E., Traynor B.J., ITALSGEN Consortium, Genomic Translation ALS Care GTAC, ALS Sequencing Consortium, NYGC ALS Consortium, Answer ALS Fdn, Clinical Res ALS Related Disorders, SLAGEN Consortium, French ALS Consortium, Project MinE ALS Sequencing Consor, Medical Research Council (MRC), ANS - Complex Trait Genetics, Human Genetics, ARD - Amsterdam Reproduction and Development, Catholic University of Leuven - Katholieke Universiteit Leuven (KU Leuven), Università cattolica del Sacro Cuore [Roma] (Unicatt), Centre référent Sclérose Latérale Amyotrophique [CHRU Montpellier] (SLA CHRU Montpellier), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université Montpellier 1 (UM1), Lunar and Planetary Laboratory [Tucson] (LPL), University of Arizona, Università degli studi di Torino (UNITO), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre National de la Recherche Scientifique (CNRS), New York Genome Center [New York], New York Genome Center, Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS), St Jude Children's Research Hospital, Howard Hughes Medical Institute [Chevy Chase] (HHMI), Howard Hughes Medical Institute (HHMI), Centre de compétence de la Sclérose Latérale Amyotrophique [CHRU Tours] (SLA CHRU Tours), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), University College of London [London] (UCL), Synchrotron SOLEIL (SSOLEIL), Centre National de la Recherche Scientifique (CNRS), King‘s College London, University of New Haven [Connecticut], Princeton University, Laboratoire de Biochimie [CHRU Nîmes], Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Institut des Neurosciences de Montpellier - Déficits sensoriels et moteurs (INM), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Technische Universität Munchen - Université Technique de Munich [Munich, Allemagne] (TUM), Helmholtz-Zentrum München (HZM), University Medical Center [Utrecht], Deutsches Forschungszentrum für Künstliche Intelligenz GmbH = German Research Center for Artificial Intelligence (DFKI), Mayo Clinic [Jacksonville], Trinity College Dublin, Maurice Wohl Clinical Neuroscience Institut, Tanz Center Research in Neurodegenerative Diseases [Toronto], University of Toronto, Neurologie et thérapeutique expérimentale, Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR70-Université Pierre et Marie Curie - Paris 6 (UPMC), Repositório da Universidade de Lisboa, Nicolas, A, Kenna, K, Renton, A, Ticozzi, N, Faghri, F, Chia, R, Dominov, J, Kenna, B, Nalls, M, Keagle, P, Rivera, A, van Rheenen, W, Murphy, N, van Vugt, J, Geiger, J, van der Spek, R, Pliner, H, Shankaracharya, N, Smith, B, Marangi, G, Topp, S, Abramzon, Y, Gkazi, A, Eicher, J, Kenna, A, Logullo, F, Simone, I, Logroscino, G, Salvi, F, Bartolomei, I, Borghero, G, Murru, M, Costantino, E, Pani, C, Puddu, R, Caredda, C, Piras, V, Tranquilli, S, Cuccu, S, Corongiu, D, Melis, M, Milia, A, Marrosu, F, Marrosu, M, Floris, G, Cannas, A, Capasso, M, Caponnetto, C, Mancardi, G, Origone, P, Mandich, P, Conforti, F, Cavallaro, S, Mora, G, Marinou, K, Sideri, R, Penco, S, Mosca, L, Lunetta, C, Pinter, G, Corbo, M, Riva, N, Carrera, P, Volanti, P, Mandrioli, J, Fini, N, Fasano, A, Tremolizzo, L, Arosio, A, Ferrarese, C, Trojsi, F, Tedeschi, G, Monsurrò, M, Piccirillo, G, Femiano, C, Ticca, A, Ortu, E, La Bella, V, Spataro, R, Colletti, T, Sabatelli, M, Zollino, M, Conte, A, Luigetti, M, Lattante, S, Santarelli, M, Petrucci, A, Pugliatti, M, Pirisi, A, Parish, L, Occhineri, P, Giannini, F, Battistini, S, Ricci, C, Benigni, M, Cau, T, Loi, D, Calvo, A, Moglia, C, Brunetti, M, Barberis, M, Restagno, G, Casale, F, Marrali, G, Fuda, G, Ossola, I, Cammarosano, S, Canosa, A, Ilardi, A, Manera, U, Grassano, M, Tanel, R, Pisano, F, Mazzini, L, Messina, S, D'Alfonso, S, Corrado, L, Ferrucci, L, Harms, M, Goldstein, D, Shneider, N, Goutman, S, Simmons, Z, Miller, T, Chandran, S, Pal, S, Manousakis, G, Appel, S, Simpson, E, Wang, L, Baloh, R, Gibson, S, Bedlack, R, Lacomis, D, Sareen, D, Sherman, A, Bruijn, L, Penny, M, Moreno, C, Kamalakaran, S, Allen, A, Boone, B, Brown, R, Carulli, J, Chesi, A, Chung, W, Cirulli, E, Cooper, G, Couthouis, J, Day-Williams, A, Dion, P, Gitler, A, Glass, J, Han, Y, Harris, T, Hayes, S, Jones, A, Keebler, J, Krueger, B, Lasseigne, B, Levy, S, Lu, Y, Maniatis, T, McKenna-Yasek, D, Myers, R, Petrovski, S, Pulst, S, Raphael, A, Ravits, J, Ren, Z, Rouleau, G, Sapp, P, Sims, K, Staropoli, J, Waite, L, Wang, Q, Wimbish, J, Xin, W, Phatnani, H, Kwan, J, Broach, J, Arcila-Londono, X, Lee, E, Van Deerlin, V, Fraenkel, E, Ostrow, L, Baas, F, Zaitlen, N, Berry, J, Malaspina, A, Fratta, P, Cox, G, Thompson, L, Finkbeiner, S, Dardiotis, E, Hornstein, E, Macgowan, D, Heiman-Patterson, T, Hammell, M, Patsopoulos, N, Dubnau, J, Nath, A, Musunuri, R, Evani, U, Abhyankar, A, Zody, M, Kaye, J, Wyman, S, Lenail, A, Lima, L, Rothstein, J, Svendsen, C, Van Eyk, J, Maragakis, N, Kolb, S, Cudkowicz, M, Baxi, E, Benatar, M, Taylor, J, Wu, G, Rampersaud, E, Wuu, J, Rademakers, R, Züchner, S, Schule, R, Mccauley, J, Hussain, S, Cooley, A, Wallace, M, Clayman, C, Barohn, R, Statland, J, Swenson, A, Jackson, C, Trivedi, J, Khan, S, Katz, J, Jenkins, L, Burns, T, Gwathmey, K, Caress, J, Mcmillan, C, Elman, L, Pioro, E, Heckmann, J, So, Y, Walk, D, Maiser, S, Zhang, J, Silani, V, Gellera, C, Ratti, A, Taroni, F, Lauria, G, Verde, F, Fogh, I, Tiloca, C, Comi, G, Sorarù, G, Cereda, C, De Marchi, F, Corti, S, Ceroni, M, Siciliano, G, Filosto, M, Inghilleri, M, Peverelli, S, Colombrita, C, Poletti, B, Maderna, L, Del Bo, R, Gagliardi, S, Querin, G, Bertolin, C, Pensato, V, Castellotti, B, Camu, W, Mouzat, K, Lumbroso, S, Corcia, P, Meininger, V, Besson, G, Lagrange, E, Clavelou, P, Guy, N, Couratier, P, Vourch, P, Danel, V, Bernard, E, Lemasson, G, Laaksovirta, H, Myllykangas, L, Jansson, L, Valori, M, Ealing, J, Hamdalla, H, Rollinson, S, Pickering-Brown, S, Orrell, R, Sidle, K, Hardy, J, Singleton, A, Johnson, J, Arepalli, S, Polak, M, Asress, S, Al-Sarraj, S, King, A, Troakes, C, Vance, C, de Belleroche, J, ten Asbroek, A, Muñoz-Blanco, J, Hernandez, D, Ding, J, Gibbs, J, Scholz, S, Floeter, M, Campbell, R, Landi, F, Bowser, R, Kirby, J, Pamphlett, R, Gerhard, G, Dunckley, T, Brady, C, Kowall, N, Troncoso, J, Le Ber, I, Kamel, F, Van Den Bosch, L, Strom, T, Meitinger, T, Shatunov, A, Van Eijk, K, de Carvalho, M, Kooyman, M, Middelkoop, B, Moisse, M, Mclaughlin, R, Van Es, M, Weber, M, Boylan, K, Van Blitterswijk, M, Morrison, K, Basak, A, Mora, J, Drory, V, Shaw, P, Turner, M, Talbot, K, Hardiman, O, Williams, K, Fifita, J, Nicholson, G, Blair, I, Esteban-Pérez, J, García-Redondo, A, Al-Chalabi, A, Al Kheifat, A, Andersen, P, Chio, A, Cooper-Knock, J, Dekker, A, Redondo, A, Gotkine, M, Hide, W, Iacoangeli, A, Kiernan, M, Landers, J, Mill, J, Neto, M, Pardina, J, Newhouse, S, Pinto, S, Pulit, S, Robberecht, W, Shaw, C, Sproviero, W, Tazelaar, G, van Damme, P, van den Berg, L, van Eijk, K, van Es, M, Veldink, J, Zatz, M, Bauer, D, Twine, N, Rogaeva, E, Zinman, L, Brice, A, Feldman, E, Ludolph, A, Weishaupt, J, Trojanowski, J, Stone, D, Tienari, P, Chiò, A, Traynor, B, Nicolas, Aude, Kenna, Kevin P, Renton, Alan E, Ticozzi, Nicola, Faghri, Faraz, Chia, Ruth, Dominov, Janice A, Kenna, Brendan J, Nalls, Mike A, Keagle, Pamela, Rivera, Alberto M, van Rheenen, Wouter, Murphy, Natalie A, van Vugt, Joke J F A, Geiger, Joshua T, Van der Spek, Rick A, Pliner, Hannah A, Shankaracharya, Null, Smith, Bradley N, Marangi, Giuseppe, Topp, Simon D, Abramzon, Yevgeniya, Gkazi, Athina Soragia, Eicher, John D, Kenna, Aoife, Mora, Gabriele, Calvo, Andrea, Mazzini, Letizia, Riva, Nilo, Mandrioli, Jessica, Caponnetto, Claudia, Battistini, Stefania, Volanti, Paolo, La Bella, Vincenzo, Conforti, Francesca L, Borghero, Giuseppe, Messina, Sonia, Simone, Isabella L, Trojsi, Francesca, Salvi, Fabrizio, Logullo, Francesco O, D'Alfonso, Sandra, Corrado, Lucia, Capasso, Margherita, Ferrucci, Luigi, Logullo, Fo, Murru, Mr, Marrosu, Mg, Conforti, Fl, Pinter, Gl, Tedeschi, Gioacchino, Monsurrò, Maria Rosaria, Parish, Ld, Cau, Tb, Moreno, Cristiane de Araujo Martin, Kamalakaran, Sitharthan, Goldstein, David B, Gitler, Aaron D, Harris, Tim, Myers, Richard M, Phatnani, Hemali, Musunuri, Rajeeva Lochan, Evani, Uday Shankar, Abhyankar, Avinash, Zody, Michael C, Kaye, Julia, Finkbeiner, Steven, Wyman, Stacia K, Lenail, Alex, Lima, Leandro, Fraenkel, Ernest, Svendsen, Clive N, Thompson, Leslie M, Van Eyk, Jennifer E, Berry, James D, Miller, Timothy M, Kolb, Stephen J, Cudkowicz, Merit, Baxi, Emily, Benatar, Michael, Taylor, J Paul, Rampersaud, Evadnie, Wu, Gang, Wuu, Joanne, Lauria, Giuseppe, Verde, Federico, Fogh, Isabella, Tiloca, Cinzia, Comi, Giacomo P, Sorarù, Gianni, Cereda, Cristina, Corcia, Philippe, Laaksovirta, Hannu, Myllykangas, Liisa, Jansson, Lilja, Valori, Miko, Ealing, John, Hamdalla, Hisham, Rollinson, Sara, Pickering-Brown, Stuart, Orrell, Richard W, Sidle, Katie C, Malaspina, Andrea, Hardy, John, Singleton, Andrew B, Johnson, Janel O, Arepalli, Sampath, Sapp, Peter C, McKenna-Yasek, Diane, Polak, Meraida, Asress, Seneshaw, Al-Sarraj, Safa, King, Andrew, Troakes, Claire, Vance, Caroline, de Belleroche, Jacqueline, Baas, Frank, Ten Asbroek, Anneloor L M A, Muñoz-Blanco, José Lui, Hernandez, Dena G, Ding, Jinhui, Gibbs, J Raphael, Scholz, Sonja W, Floeter, Mary Kay, Campbell, Roy H, Landi, Francesco, Bowser, Robert, Pulst, Stefan M, Ravits, John M, Macgowan, Daniel J L, Kirby, Janine, Pioro, Erik P, Pamphlett, Roger, Broach, Jame, Gerhard, Glenn, Dunckley, Travis L, Brady, Christopher B, Kowall, Neil W, Troncoso, Juan C, Le Ber, Isabelle, Mouzat, Kevin, Lumbroso, Serge, Heiman-Patterson, Terry D, Kamel, Freya, Van Den Bosch, Ludo, Baloh, Robert H, Strom, Tim M, Meitinger, Thoma, Shatunov, Aleksey, Van Eijk, Kristel R, de Carvalho, Mamede, Kooyman, Maarten, Middelkoop, Ba, Moisse, Matthieu, Mclaughlin, Russell L, Van Es, Michael A, Weber, Marku, Boylan, Kevin B, Van Blitterswijk, Marka, Rademakers, Rosa, Morrison, Karen E, Basak, A Nazli, Mora, Jesús S, Drory, Vivian E, Shaw, Pamela J, Turner, Martin R, Talbot, Kevin, Hardiman, Orla, Williams, Kelly L, Fifita, Jennifer A, Nicholson, Garth A, Blair, Ian P, Rouleau, Guy A, Esteban-Pérez, Jesú, García-Redondo, Alberto, Al-Chalabi, Ammar, Rogaeva, Ekaterina, Zinman, Lorne, Ostrow, Lyle W, Maragakis, Nicholas J, Rothstein, Jeffrey D, Simmons, Zachary, Cooper-Knock, Johnathan, Brice, Alexi, Goutman, Stephen A, Feldman, Eva L, Gibson, Summer B, Taroni, Franco, Ratti, Antonia, Gellera, Cinzia, Van Damme, Philip, Robberecht, Wim, Fratta, Pietro, Sabatelli, Mario, Lunetta, Christian, Ludolph, Albert C, Andersen, Peter M, Weishaupt, Jochen H, Camu, William, Trojanowski, John Q, Van Deerlin, Vivianna M, Brown, Robert H, van den Berg, Leonard H, Veldink, Jan H, Harms, Matthew B, Glass, Jonathan D, Stone, David J, Tienari, Pentti, Silani, Vincenzo, Chiò, Adriano, Shaw, Christopher E, Traynor, Bryan J, Landers, John E, Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Régional Universitaire de Tours (CHRU TOURS), and Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)

Subjects
Male, Als gene, Genome-wide association study, FAMILIAL ALS, ALS, axonal transport, cargo, GWAS, KIF5A, WES, WGS, 0302 clinical medicine, 80 and over, Psychology, Aetiology, Aged, 80 and over, 0303 health sciences, French ALS Consortium, Kinesin, KINESIN HEAVY-CHAIN, Cognitive Sciences, Human, Hereditary spastic paraplegia, Neuroscience(all), Single-nucleotide polymorphism, TARGETED DISRUPTION, Article, 03 medical and health sciences, Genetics, Humans, Amino Acid Sequence, Loss function, Aged, HEXANUCLEOTIDE REPEAT, Neuroscience (all), MUTATIONS, Amyotrophic Lateral Sclerosis, 3112 Neurosciences, 1702 Cognitive Science, medicine.disease, ITALSGEN Consortium, Answer ALS Foundation, 030104 developmental biology, ALS Sequencing Consortium, Human medicine, 1109 Neurosciences, 030217 neurology & neurosurgery, 0301 basic medicine, [SDV]Life Sciences [q-bio], Kinesins, Neurodegenerative, Genetic analysis, Genome, AMYOTROPHIC-LATERAL-SCLEROSIS, 3124 Neurology and psychiatry, Cohort Studies, Pathogenesis, Loss of Function Mutation, Missense mutation, 2.1 Biological and endogenous factors, Amyotrophic lateral sclerosis, NYGC ALS Consortium, General Neuroscience, ALS, axonal transport, cargo, GWAS, KIF5A, WES, WGS, Middle Aged, Phenotype, Settore MED/26 - NEUROLOGIA, Neurological, Project MinE ALS Sequencing Consortium, Female, Adult, Biology, GENOTYPE IMPUTATION, Genome-Wide Association Study, Young Adult, NO, Rare Diseases, medicine, SLAGEN Consortium, Gene, 030304 developmental biology, Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium, Neurology & Neurosurgery, Human Genome, Neurosciences, AXONAL-TRANSPORT, Brain Disorders, Family member, DNA-DAMAGE, MOTOR-NEURONS, 3111 Biomedicine, Cohort Studie, Genomic Translation for ALS Care (GTAC) Consortium, Amyotrophic Lateral Sclerosi
Abstract

© 2018 Elsevier Inc., To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). In contrast, ALS-associated mutations are primarily located at the C-terminal cargo-binding tail domain and patients harboring loss-of-function mutations displayed an extended survival relative to typical ALS cases. Taken together, these results broaden the phenotype spectrum resulting from mutations in KIF5A and strengthen the role of cytoskeletal defects in the pathogenesis of ALS.

Published
2018
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