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1.
Rev Cardiovasc Med ; 25(7): 247, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-39139420

RESUMEN

Background: Cardiopulmonary exercise testing (CPET) assesses exercise capacity and causes of exercise limitation in patients with pulmonary hypertension (PH). At altitude, changes occur in the ventilatory pattern and a decrease in arterial oxygen pressure in healthy; these changes are increased in patients with cardiopulmonary disease. Our objective was to compare the response to exercise and gas exchange between patients with pulmonary arterial hypertension (PAH) and chronic thromboembolic pulmonary hypertension (CTEPH) residing at the altitude of Bogotá (2640 m). Methods: All patients performed an incremental CPET with measurement of oxygen consumption ( VO 2 ), dead space (VD/VT), ventilatory equivalents (VE/ VCO 2 ), and alveolar-arterial oxygen gradient ( PA-aO 2 ). X 2 test and one-way analysis of variance were used for comparisons between PAH and CTEPH. Results: We included 53 patients, 29 with PAH, 24 with CTEPH, and 102 controls as a reference of the normal response to exercise at altitude. CTEPH patients had a higher New York Health Association (NYHA) functional class than PAH (p = 0.037). There were no differences between patients with PAH and CTEPH in hemodynamics and VO 2 % of predicted (67.8 ± 18.7 vs. 66.0 ± 19.8, p < 0.05), but those with CTEPH had higher dyspnea, VD/VT (0.36 ± 0.09 vs. 0.23 ± 0.9, p < 0.001), VE/ VCO 2 (45.8 ± 7.1 vs. 39.3 ± 5.6, p < 0.001), and PA-aO 2 (19.9 ± 7.6 vs. 13.5 ± 7.6, p < 0.001) than PAH patients. Conclusions: At altitude, patients with PH present severe alterations in gas exchange during exercise. There were no differences in exercise capacity between PAH and CTEPH, but patients with CTEPH had more dyspnea and greater alterations in gas exchange during exercise. CPET made it possible to identify alterations related to the pathophysiology of CTEPH that could explain the functional class and dyspnea in these patients.

2.
Mol Genet Genomic Med ; 12(7): e2480, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38958145

RESUMEN

BACKGROUND: Pompe Disease (PD) is a metabolic myopathy caused by variants in the GAA gene, resulting in deficient enzymatic activity. We aimed to characterize the clinical features and related genetic variants in a series of Mexican patients. METHODS: We performed a retrospective study of clinical records of patients diagnosed with LOPD, IOPD or pseudodeficiency. RESULTS: Twenty-nine patients were included in the study, comprising these three forms. Overall, age of symptom onset was 0.1 to 43 years old. The most frequent variant identified was c.-32-13T>G, which was detected in 14 alleles. Among the 23 different variants identified in the GAA gene, 14 were classified as pathogenic, 5 were likely pathogenic, and 1 was a variant of uncertain significance. Two variants were inherited in cis arrangement and 2 were pseudodeficiency-related benign alleles. We identified two novel variants (c.1615 G>A and c.1076-20_1076-4delAAGTCGGCGTTGGCCTG). CONCLUSION: To the best of our knowledge, this series represent the largest phenotypic and genotypic characterization of patients with PD in Mexico. Patients within our series exhibited a combination of LOPD and IOPD associated variants, which may be related to genetic diversity within Mexican population. Further population-wide studies are required to better characterize the incidence of this disease in Mexican population.


Asunto(s)
Edad de Inicio , Enfermedad del Almacenamiento de Glucógeno Tipo II , Mutación , alfa-Glucosidasas , Humanos , Enfermedad del Almacenamiento de Glucógeno Tipo II/genética , Enfermedad del Almacenamiento de Glucógeno Tipo II/patología , Masculino , Femenino , Preescolar , Niño , Adulto , alfa-Glucosidasas/genética , Lactante , México/epidemiología , Adolescente , Fenotipo , Estudios Retrospectivos , Estudios de Asociación Genética , Alelos , Adulto Joven
3.
Eur Heart J Case Rep ; 8(6): ytae283, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38915738

RESUMEN

Background: Atrio-oesophageal fistulas (AEFs) are an uncommon complication of pulmonary vein ablation, and its diagnosis is challenging. Multidisciplinary interventions and diagnostic imaging are usually required and may play a role in the initial assessment. Case summary: A 69-year-old female with atrial fibrillation who had undergone recent pulmonary vein ablation consulted with unspecific symptoms and sudden hemiparesis. Brain imaging showed pneumocephalus and acute infarcts. Chest computed tomography (CT) was highly suspicious for AEF. Surgical exploration revealed a swollen mediastinum attached to the right inferior pulmonary vein. Discussion: Non-specific symptoms after pulmonary vein ablation should prompt the suspicion of complications. In the presence of fever or neurological deficit, AEF must be suspected and assessed with a contrast-enhanced chest CT, which has become the gold standard. In brain imaging, pneumocephalus and multiple punctate acute infarcts might also indicate the presence of this complication.

4.
Eur J Contracept Reprod Health Care ; 28(6): 295-300, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-37910020

RESUMEN

OBJECTIVE: To describe the knowledge, attitudes, and perceptions of healthcare providers in a region in southwestern Colombia regarding the recommendation and use of long-acting reversible contraceptive (LARC) methods for adolescents. STUDY DESIGN: This was a cross-sectional study. An online exploratory survey was designed to assess healthcare providers' knowledge, attitudes, and perceptions of Valle del Cauca hospitals. For the development of this the questionnaire, a literature search and validation of the instrument's appearance were conducted. RESULTS: The survey was completed by 115 people. Knowledge: 62.6% and 33% of the participants did not consider themselves capable of correctly placing an intrauterine device (IUD) or a subdermal implant, respectively. However, 73.9% of the participants had adequate theoretical knowledge. Attitudes: 64.3% of the participants considered that adolescents can acquire contraceptive methods without limitations. Short-acting reversible methods were the least recommended. Perceptions: For IUDs, 40.8% and 16.5% of the participants imposed a minimum age and minimum parity requirement for their use, respectively. Side effects were the main reason for not recommending in health institutions with a lower level of complexity. CONCLUSION: Healthcare providers had positive attitudes and adequate theoretical knowledge concerning to the effectiveness of LARCs. The main areas for improvement were practical knowledge about the insertion and proper use of the devices, indications for referral to gynaecologists for the insertion procedure, and concerns about side effects.


Our research explores healthcare providers' knowledge, attitudes, and perceptions regarding long-acting reversible contraceptives for adolescents. While attitudes were positive, practical knowledge gaps on device, placement and referral indications emerged. Read the full findings to uncover more about LARCs in adolescent healthcare.


Asunto(s)
Anticonceptivos Femeninos , Dispositivos Intrauterinos , Embarazo , Femenino , Humanos , Adolescente , Conocimientos, Actitudes y Práctica en Salud , Estudios Transversales , Anticoncepción/métodos , Personal de Salud
5.
Artículo en Inglés | MEDLINE | ID: mdl-37444048

RESUMEN

The population in the world is aging dramatically, and therefore, the economic and social effort required to maintain the quality of life is being increased. Assistive technologies are progressively expanding and present great opportunities; however, given the sensitivity of health issues and the vulnerability of older adults, some considerations need to be considered. This paper presents DigiHEALTH, a suite of digital solutions for long-term healthy and active aging. It is the result of a fruitful trajectory of research in healthy aging where we have understood stakeholders' needs, defined the main suite properties (that would allow scalability and interoperability with health services), and codesigned a set of digital solutions by applying a continuous reflexive cycle. At the current stage of development, the digital suite presents eight digital solutions to carry out the following: (a) minimize digital barriers for older adults (authentication system based on face recognition and digital voice assistant), (b) facilitate active and healthy living (well-being assessment module, recommendation system, and personalized nutritional system), and (c) mitigate specific impairments (heart failure decompensation, mobility assessment and correction, and orofacial gesture trainer). The suite is available online and it includes specific details in terms of technology readiness level and specific conditions for usage and acquisition. This live website will be continually updated and enriched with more digital solutions and further experiences of collaboration.


Asunto(s)
Calidad de Vida , Dispositivos de Autoayuda
6.
Clin Genet ; 104(1): 121-126, 2023 07.
Artículo en Inglés | MEDLINE | ID: mdl-36896672

RESUMEN

PKDCC encodes a component of Hedgehog signalling required for normal chondrogenesis and skeletal development. Although biallelic PKDCC variants have been implicated in rhizomelic shortening of limbs with variable dysmorphic features, this association was based on just two patients. In this study, data from the 100 000 Genomes Project was used in conjunction with exome sequencing and panel-testing results accessed via international collaboration to assemble a cohort of eight individuals from seven independent families with biallelic PKDCC variants. The allelic series included six frameshifts, a previously described splice-donor site variant and a likely pathogenic missense variant observed in two families that was supported by in silico structural modelling. Database queries suggested that the prevalence of this condition is between 1 of 127 and 1 of 721 in clinical cohorts with skeletal dysplasia of unknown aetiology. Clinical assessments, combined with data from previously published cases, indicate a predominantly upper limb involvement. Micrognathia, hypertelorism and hearing loss appear to be commonly co-occurring features. In conclusion, this study strengthens the link between biallelic inactivation of PKDCC and rhizomelic limb-shortening and will enable clinical testing laboratories to better interpret variants in this gene.


Asunto(s)
Enanismo , Osteocondrodisplasias , Humanos , Proteínas Hedgehog , Osteocondrodisplasias/patología , Prevalencia , Sitios de Empalme de ARN
7.
J Appl Biomech ; 39(1): 22-33, 2023 Feb 01.
Artículo en Inglés | MEDLINE | ID: mdl-36649717

RESUMEN

This study assessed the effectiveness of a passive back support exoskeleton during a mechanical loading task. Fifteen healthy participants performed a simulated patient transfer task while wearing the Laevo (version 2.5) passive back support exoskeleton. Collected metrics encompassed L5-S1 joint moments, back and abdominal muscle activity, lower body and back kinematics, center of mass displacement, and movement smoothness. A statistical parametric mapping analysis approach was used to overcome limitations from discretization of continuous data. The exoskeleton reduced L5-S1 joint moments during trunk flexion, but wearing the device restricted L5-S1 joint flexion when flexing the trunk as well as hip and knee extension, preventing participants from standing fully upright. Moreover, wearing the device limited center of mass motion in the caudal direction and increased its motion in the anterior direction. Therefore, wearing the exoskeleton partly reduced lower back moments during the lowering phase of the patient transfer task, but there were some undesired effects such as altered joint kinematics and center of mass displacement. Statistical parametric mapping analysis was useful in determining the benefits and hindrances produced by wearing the exoskeleton while performing the simulated patient transfer task and should be utilized in further studies to inform design and appropriate usage.


Asunto(s)
Dispositivo Exoesqueleto , Humanos , Electromiografía , Transferencia de Pacientes , Movimiento/fisiología , Extremidad Inferior , Fenómenos Biomecánicos
9.
Acta méd. colomb ; 47(1): 1-6, ene.-mar. 2022. tab, graf
Artículo en Español | LILACS-Express | LILACS | ID: biblio-1374096

RESUMEN

Resumen Introducción: la fibrosis pulmonar idiopática (FPI) es una enfermedad pulmonar intersticial (EPID) de mal pronóstico, considerada huérfana en Colombia. Un diagnóstico correcto tiene implicaciones para el paciente y los costos de atención. Los grupos de discusión multidisciplinaria (GDM) se consideran el estándar de oro en el diagnóstico. No hay estudios previos en Colombia de la experiencia de un GDM. Objetivos: evaluar el impacto de un GDM en una institución de cuarto nivel en Bogotá en cambio de diagnóstico de pacientes con EPID y la concordancia entre el diagnóstico inicial y final de FPI. Material y métodos: pacientes con EPID evaluados entre 2015-2018 por el GDM conformado por neumólogos, radiólogo, patólogo y reumatólogos. Criterios ATS/ERS/JRS/ALAT de diagnóstico de FPI. Descripción del cambio en el diagnóstico y concordancia entre el diagnóstico inicial y del GDM en FPI. Resultados: de 165 pacientes con EPID se cambió el diagnóstico en 35.2%. En 77.3% pacientes con diagnóstico inicial de FPI y en 6.7% con diagnóstico inicial diferente a FPI el GDM confirmó FPI. Al descartar FPI, los principales diagnósticos fueron neumonitis de hipersensibilidad en fase crónica (29.4%) y neumonía intersticial no específica (23.5%). El índice kappa entre el diagnóstico inicial y final de FPI fue 0.71 (0.60-0.82). Conclusiones: el GDM en EPID tuvo un importante impacto clínico demostrado por un alto porcentaje de cambió del diagnóstico de remisión. Se descartó el diagnóstico inicial de FPI en un porcentaje significativo de pacientes y se ratificó en un grupo menor sin esta sospecha clínica inicial. (Acta Med Colomb 2022; 47. DOI:https://doi.org/10.36104/amc.2022.2017).


Abstract Introduction: idiopathic pulmonary fibrosis (IPF) is an interstitial lung disease (ILD) with a poor prognosis, considered an orphan disease in Colombia. An accurate diagnosis has implications for the patient and healthcare costs. Multidisciplinary discussion groups (MDGs) are considered the gold standard for diagnosis. There are no prior studies in Colombia on the experience of an MDG. Objectives: to evaluate the impact of an MDG in a quaternary care institution in Bogotá on the change in the diagnosis of patients with ILD and the concordance between the initial and final diagnosis of IPF. Materials and methods: patents with ILD evaluated from 2015-2018 by the MDG made up of pulmonologists, a radiologist, a pathologist and rheumatologists. The ATS/ERS/JRS/ALAT diagnostic criteria for IPF. A description of changes in the diagnosis and the agreement between the initial diagnosis and the MDG diagnosis of IPF. Results: out of 165 patients with ILD, the diagnosis was changed in 32.5%. The MDG confirmed IPF in 77.3% of patients with an initial diagnosis of ILD and 6.7% of those with a different initial diagnosis. When IPF was ruled out, the main diagnoses were chronic hypersensitivity pneumonitis (24.8%) and nonspecific interstitial pneumonia (23.5%). The Kappa index between the initial and final IPF diagnoses was 0.71 (0.60-0.82). Conclusions: the MDG on ILD had a significant clinical impact evidenced by a high percentage of change in the referral diagnosis. The initial diagnosis of IPF was ruled out in a significant percentage of patients and confirmed in a smaller group which did not have this initial clinical suspicion. (Acta Med Colomb 2022; 47. DOI:https://doi.org/10.36104/amc.2022.2017).

10.
Annu Int Conf IEEE Eng Med Biol Soc ; 2021: 6019-6024, 2021 11.
Artículo en Inglés | MEDLINE | ID: mdl-34892489

RESUMEN

Exoskeleton-assisted gait rehabilitation is a promising complement to traditional motion rehabilitation programs for afflictions such as stroke or spinal cord injury. However, some challenges persist that hinder the translation of this approach to the clinical practice. One of these aspects is the objective assessment of patients' progress from information collected during exoskeleton-assisted therapy sessions with minimal hardware setup. In order to carry out an objective assessment with the data collected during the sessions, in this work: (1) we implement and compute a set of metrics (Harmonic Ratio, Joint Trajectory Correlation, and Intralimb Coordination) from data provided by the exoskeleton and two inertial motion units (IMUs) while subjects walked during their rehabilitation sessions, (2) we evaluate the capacity of the metrics to discriminate between the different patients' physical conditions, and (3) assess the correspondence of the patient evaluations using the mentioned metrics and traditional clinical scores. Our results show that Intralimb Coordination has the greatest capacity to discriminate between different physical states of the patients and presents the best correlation with their clinical assessment.Clinical relevance- This work could guide clinicians and researchers to formulate a more objective assessment of progress of patients who have experienced a spinal cord in- jury using data collected during exoskeleton-assisted therapy sessions.


Asunto(s)
Dispositivo Exoesqueleto , Traumatismos de la Médula Espinal , Rehabilitación de Accidente Cerebrovascular , Marcha , Humanos , Caminata
11.
Acevedo-Peña, Juan; Yomayusa-González, Nancy; Cantor-Cruz, Francy; Pinzon-Florez, Carlos; Barrero-Garzón, Liliana; De-La-Hoz-Siegler, Ilich; Low-Padilla, Eduardo; Ramírez-Ceron, Carlos; Combariza-Vallejo, Felipe; Arias-Barrera, Carlos; Moreno-Cortés, Javier; Rozo-Vanstrahlen, José; Correa-Pérez, Liliana; Rojas-Gambasica, José; González-González, Camilo; La-Rotta-Caballero, Eduardo; Ruíz-Talero, Paula; Contreras-Páez, Rubén; Lineros-Montañez, Alberto; Ordoñez-Cardales, Jorge; Escobar-Olaya, Mario; Izaguirre-Ávila, Raúl; Campos-Guerra, Joao; Accini-Mendoza, José; Pizarro-Gómez, Camilo; Patiño-Pérez, Adulkarín; Flores-Rodríguez, Janine; Valencia-Moreno, Albert; Londoño-Villegas, Alejandro; Saavedra-Rodríguez, Alfredo; Madera-Rojas, Ana; Caballero-Arteaga, Andrés; Díaz-Campos, Andrés; Correa-Rivera, Felipe; Mantilla-Reinaud, Andrés; Becerra-Torres, Ángela; Peña-Castellanos, Ángela; Reina-Soler, Aura; Escobar-Suarez, Bibiana; Patiño-Escobar, Bonell; Rodríguez-Cortés, Camilo; Rebolledo-Maldonado, Carlos; Ocampo-Botero, Carlos; Rivera-Ordoñez, Carlos; Saavedra-Trujillo, Carlos; Figueroa-Restrepo, Catalina; Agudelo-López, Claudia; Jaramillo-Villegas, Claudia; Villaquirán-Torres, Claudio; Rodríguez-Ariza, Daniel; Rincón-Valenzuela, David; Lemus-Rojas, Melissa; Pinto-Pinzón, Diego; Garzón-Díaz, Diego; Cubillos-Apolinar, Diego; Beltrán-Linares, Edgar; Kondo-Rodríguez, Emilio; Yama-Mosquera, Erica; Polania-Fierro, Ernesto; Real-Urbina, Evalo; Rosas-Romero, Andrés; Mendoza-Beltrán, Fernán; Guevara-Pulido, Fredy; Celia-Márquez, Gina; Ramos-Ramos, Gloria; Prada-Martínez, Gonzalo; León-Basantes, Guillermo; Liévano-Sánchez, Guillermo; Ortíz-Ruíz, Guillermo; Barreto-García, Gustavo; Ibagón-Nieto, Harold; Idrobo-Quintero, Henry; Martínez-Ramírez, Ingrid; Solarte-Rodríguez, Ivan; Quintero-Barrios, Jorge; Arenas-Gamboa, Jaime; Pérez-Cely, Jairo; Castellanos-Parada, Jeffrey; Garzón-Martínez, Fredy; Luna-Ríos, Joaquín; Lara-Terán, Joffre; Vargas-Fodríguez, Johanna; Dueñas-Villamil, Rubén; Bohórquez-Feyes, Vicente; Martínez-Acosta, Carlos; Gómez-Mesa, Esteban; Gaitán-Rozo, Julián; Cortes-Colorado, Julián; Coral-Casas, Juliana; Horlandy-Gómez, Laura; Bautista-Toloza, Leonardo; Palacios Palacios, Leonardo; Fajardo-Latorre, Lina; Pino-Villarreal, Luis; Rojas-Puentes, Leonardo; Rodríguez-Sánchez, Patricia; Herrera-Méndez, Mauricio; Orozco-Levi, Mauricio; Sosa-Briceño, Mónica; Moreno-Ruíz, Nelson; Sáenz-Morales, Oscar; Amaya-González, Pablo; Ramírez-García, Sergio; Nieto-Estrada, Víctor; Carballo-Zárate, Virgil; Abello-Polo, Virginia.
Acta méd. colomb ; 46(1): 51-72, ene.-mar. 2021. tab, graf
Artículo en Inglés, Español | LILACS, COLNAL | ID: biblio-1278159

RESUMEN

resumen está disponible en el texto completo


Abstract Recent studies have reported the occurrence of thrombotic phenomena or coagulopathy in patients with COVID-19. There are divergent positions regarding the prevention, diagnosis, and treatment of these phenomena, and current clinical practice is based solely on deductions by extension from retrospective studies, case series, observational studies, and international guidelines developed prior to the pandemic. In this context, the aim was to generate a group of recommendations on the prevention, diagnosis and management of thrombotic complications associated with COVID-19. Methods: A rapid guidance was carried out applying the GRADE Evidence to Decision (EtD) frameworks and an iterative participation system, with statistical and qualitative analysis. Results: 31 clinical recommendations were generated focused on: a) Coagulation tests in symptomatic adults with suspected infection or confirmed SARS CoV-2 infection; b) Thromboprophylaxis in adults diagnosed with COVID-19 (Risk scales, thromboprophylaxis for outpatient, in-hospital management, and duration of thromboprophylaxis after discharge from hospitalization), c) Diagnosis and treatment of thrombotic complications, and d) Management of people with previous indication of anticoagulant agents. Conclusions: Recommendations of this consensus guide clinical decision-making regarding the prevention, diagnosis, and treatment of thrombotic phenomena in patients with COVID-19, and represent an agreement that will help decrease the dispersion in clinical practices according to the challenge imposed by the pandemic.


Asunto(s)
Humanos , Masculino , Femenino , Adulto , SARS-CoV-2 , COVID-19 , Embolia y Trombosis , Consenso , Anticoagulantes
12.
Med Image Anal ; 67: 101820, 2021 01.
Artículo en Inglés | MEDLINE | ID: mdl-33075642

RESUMEN

Surgical planning of percutaneous interventions has a crucial role to guarantee the success of minimally invasive surgeries. In the last decades, many methods have been proposed to reduce clinician work load related to the planning phase and to augment the information used in the definition of the optimal trajectory. In this survey, we include 113 articles related to computer assisted planning (CAP) methods and validations obtained from a systematic search on three databases. First, a general formulation of the problem is presented, independently from the surgical field involved, and the key steps involved in the development of a CAP solution are detailed. Secondly, we categorized the articles based on the main surgical applications, which have been object of study and we categorize them based on the type of assistance provided to the end-user.


Asunto(s)
Cirugía Asistida por Computador , Humanos , Procedimientos Quirúrgicos Mínimamente Invasivos
13.
Infectio ; 24(4): 255-258, oct.-dic. 2020. tab, graf
Artículo en Español | LILACS, COLNAL | ID: biblio-1114878

RESUMEN

Resumen El Streptococcus pseudoporcinus es un germen de la clasificación Beta hemolítico, con similitud a Streptococcus agalactiae, con baja incidencia en producción de infección pero principalmente aislado en tracto genitourinario de mujeres embarazadas y relacionado con complicaciones materno-fetales. Reportes en la literatura como infección fuera de este sitio son inusuales, por lo cual presentamos un caso de un hombre de 48 años con infección de tracto respiratorio bajo, compatible con colección neumónica y un derrame paraneumonico complicado, con requerimiento de manejo antibiótico y drenaje por toracostomia. Al realizar el estudio microbiológico se reportó aislamiento de un Streptococcus pseudoporcinus. No hay reportes previos en la literatura como causa de infección en este sitio anatómico.


Abstract Streptococcus pseudoporcinus in a germ of the Beta hemolytic group, similar to Streptococcus agalactiae, with low incidence in the production of infection, and isolated in most of cases from the genitourinary tract of pregnant women and related to maternal and fetal complications; the reports in the literature as infection outside this site are unusual. We describe a case of one 48-year-old man with a low respiratory tract infection with a pneumonic collection and a complicated parapneumonic effusion, requiring antibiotic management and thoracostomy drainage. Isolation of a Streptococcus pseudoporcinus. There is no report in the literatura as a cause of infection in this anatomical site.


Asunto(s)
Humanos , Masculino , Adulto , Neumonía , Infecciones del Sistema Respiratorio , Streptococcus agalactiae , Sistema Respiratorio , Streptococcus , Mujeres Embarazadas , Infecciones
14.
Neuromuscul Disord ; 30(12): 986-990, 2020 12.
Artículo en Inglés | MEDLINE | ID: mdl-33187793

RESUMEN

Charcot Marie Tooth disease (CMT) is a progressive motor and sensory polyneuropathy, it is characterized by a very heterogeneous molecular basis and phenotype. MFN2 and GDAP1 participate in mitochondrial energy metabolism and the rare coinheritance of its pathogenic variants has been associated with a cumulative effect in the observed phenotype. We describe a patient with a severe axonal CMT and inherited heterozygous MFN2 (p.Leu741Val) and GDAP1 (p.Gln163*) variants. In accordance with a possible digenic inheritance, none of the heterozygous carriers in his family were symptomatic or exhibited electrophysiological abnormalities. We also review all of the previously reported patients with coinheritance of variants in these two genes; similar to our patient, all exhibit a predominantly axonal severe CMT phenotype. Our findings expand the genotypic spectrum of CMT and further support that digenic inheritance should be considered for analyzing and counseling CMT patients.


Asunto(s)
Enfermedad de Charcot-Marie-Tooth/genética , GTP Fosfohidrolasas , Proteínas Mitocondriales , Proteínas del Tejido Nervioso , Adulto , Niño , Femenino , Asesoramiento Genético , Pruebas Genéticas , Genotipo , Heterocigoto , Humanos , Masculino , Mutación , Linaje , Fenotipo , Adulto Joven
15.
Rev. colomb. cardiol ; 27(5): 446-460, sep.-oct. 2020. tab, graf
Artículo en Español | LILACS, COLNAL | ID: biblio-1289255

RESUMEN

Introducción estudios recientes han reportado fenómenos trombóticos o coagulopatía en pacientes con COVID-19. Hay posiciones divergentes en cuanto a la prevención, el diagnóstico y el tratamiento de estos fenómenos, y la práctica clínica actual está basada únicamente en deducciones por extensión a partir de estudios retrospectivos, series de casos, estudios observacionales y guías internacionales desarrolladas previas a la pandemia. Objetivo establecer una serie de recomendaciones sobre prevención, diagnóstico y manejo de las complicaciones trombóticas asociadas a COVID-19. Métodos se desarrolló una guía rápida en la que se aplicó el marco de la evidencia a la decisión (EtD) de GRADE y un sistema de participación iterativo, con análisis estadísticos y cualitativos de sus resultados. Resultados se generaron 31 recomendaciones clínicas enfocadas a: a) Pruebas de coagulación en adultos sintomáticos con sospecha de infección o infección confirmada por SARS-CoV-2; b) Tromboprofilaxis en personas adultas con diagnóstico de COVID-19 (escalas de riesgo, tromboprofilaxis de manejo ambulatorio, intrahospitalario y duración de tromboprofilaxis después del egreso de hospitalización), c) Diagnóstico y tratamiento de las complicaciones trombóticas y d) Manejo de personas con indicación previa a usar agentes anticoagulantes. Conclusiones las recomendaciones clínicas de este consenso orientan la toma de decisiones clínicas respecto a prevención, diagnóstico y tratamiento de fenómenos trombóticos en pacientes con COVID-19, y representan un acuerdo que ayudará a disminuir la dispersión en las prácticas clínicas acorde con el desafío que impone la pandemia.


Abstract Introduction: recent studies have reported the occurrence of thrombotic phenomena or coagulopathy in patients with COVID-19. There are divergent positions regarding the prevention, diagnosis, and treatment of these phenomena, and current clinical practice is based solely on deductions by extension from retrospective studies, case series, observational studies, and international guidelines developed prior to the pandemic. Objective: to generate a group of recommendations on the prevention, diagnosis and management of thrombotic complications associated with COVID-19. Methods: a rapid guidance was carried out applying the GRADE Evidence to Decision (EtD) frameworks and an iterative participation system, with statistical and qualitative analysis. Results: 31 clinical recommendations were generated focused on: a) Coagulation tests in symptomatic adults with suspected infection or confirmed SARS CoV-2 infection; b) Thromboprophylaxis in adults diagnosed with COVID-19 (Risk scales, thromboprophylaxis for outpatient, in-hospital management, and duration of thromboprophylaxis after discharge from hospitalization), c) Diagnosis and treatment of thrombotic complications, and d) Management of people with previous indication of anticoagulant agents. Conclusions: recommendations of this consensus guide clinical decision-making regarding the prevention, diagnosis, and treatment of thrombotic phenomena in patients with COVID-19, and represent an agreement that will help decrease the dispersion in clinical practices according to the challenge imposed by the pandemic.


Asunto(s)
Humanos , Adulto , Consenso , Diagnóstico , COVID-19 , Trastornos de la Coagulación Sanguínea , Embolia y Trombosis , SARS-CoV-2 , COVID-19 , Anticoagulantes
16.
J Biomed Inform ; 108: 103460, 2020 08.
Artículo en Inglés | MEDLINE | ID: mdl-32512210

RESUMEN

Surgical planning for StereoElectroEncephaloGraphy (SEEG) is a complex and patient specific task, where the experience and medical workflow of each institution may influence the final planning choices. To account for this variability, we developed a data-based Computer Assisted Planning (CAP) solution able to exploit the knowledge extracted by past cases. By the analysis of retrospective patients' data sets, our system proposes a pool of trajectories commonly used by the institution, which can be selected to initialize a new patient plan. An optimization framework adapts those to the patient's anatomy by optimizing clinical requirements (e.g. distance from vessel, gray matter recording and insertion angle), and adapting its strategy based on the trajectory type selected.The system has been customized based on the data of a single institution. Two neurosurgeons, working in a high-volume hospital, have validated it by using 15 retrospective patient data sets, with more than 200 trajectories reviewed. Both surgeons considered ~81% of the optimized trajectories as clinically feasible (75% inter-rater reliability). Quantitative comparison of distance from vessels, insertion angle and gray matter recording index showed that the optimized trajectories reached superior or comparable values with respect to the original manual plans. The results suggest that a tailored center-based solution could increase the acceptance rate of the automated trajectories proposed.


Asunto(s)
Electroencefalografía , Técnicas Estereotáxicas , Humanos , Conocimiento , Planificación de la Radioterapia Asistida por Computador , Reproducibilidad de los Resultados , Estudios Retrospectivos
17.
Case reports (Universidad Nacional de Colombia. En línea) ; 6(1): 44-51, Jan.-June 2020. tab, graf
Artículo en Inglés | LILACS-Express | LILACS | ID: biblio-1098161

RESUMEN

ABSTRACT Introduction: Rifampin is a cornerstone for the first phase of the treatment of pulmonary tuberculosis. This report presents the case of a patient with allergic tubulointerstitial nephritis (ATIN) due to rifampin, situation that has not been reported in Colombia. Case presentation: A male patient with a history of pulmonary tuberculosis treated with rifampin developed acute kidney injury. On admission, no evidence of abnormalities or history to explain the injury was found, but he did present tubular acidosis and associated Fanconi syndrome. The kidney injury was temporarily consistent with rifampicin use, and a kidney biopsy confirmed ATIN. The drug was suspended, resulting in improved kidney function. Discussion: ATIN as a side effect of rifampin is a scarcely reported disease. The risk of developing this condition should be considered when starting and restarting treatments with this medication. Conclusion: ATIN is one of the side effects of tuberculosis treatment. Albeit rare, it should be considered when starting tuberculosis medications.


RESUMEN Introducción. La rifampicina es un medicamento fundamental en la primera fase del tratamiento en la tuberculosis pulmonar; sin embargo, esta puede causar nefritis tubulointersticial aguda (NTIA) en raras ocasiones. Presentación del caso. Paciente masculino con antecedentes de tuberculosis y en tratamiento con rifampicina, quien desarrolló lesión renal aguda. Al ingreso, el sujeto no registró anormalidades o antecedentes que explicaran lesión renal, pero sí presentaba acidosis tubular y síndrome de Fanconi asociado. La lesión renal concordó temporalmente con el uso de rifampicina y una biopsia de riñón confirmó NTIA. Se ordenó suspender el medicamento, con lo cual la función renal mejoró. Discusión. La NTIA como un efecto secundario de la rifampicina es una enfermedad poco reportada, por tanto, al iniciar y al reiniciar el manejo con este medicamento se debe tener en cuenta el riesgo de desarrollarla. Conclusión. La NTIA es uno de los efectos secundarios del tratamiento de la tuberculosis y, aunque es raro, debe tenerse en cuenta al iniciar el esquema de medicamentos para la tuberculosis.

18.
Biomedica ; 40(1): 27-33, 2020 03 01.
Artículo en Inglés, Español | MEDLINE | ID: mdl-32220161

RESUMEN

The infection by Nocardia spp is not common in immunocompetent patients. The empirical antimicrobial treatment directed by anatomical regions does not contemplate the particularities of the germ and the microbiological analysis is necessary for the specific treatment. We present the case of a previously healthy and immunocompetent patient, without known risk factors for Nocardia spp. infection, with evidence of involvement of the pulmonary parenchyma and the skin and subsequent development of multiple brain abscesses.


La infección por Nocardia spp. no es común en pacientes inmunocompetentes. El tratamiento antimicrobiano empírico dirigido según las regiones anatómicas, no contempla las particularidades del germen y el análisis microbiológico se hace necesario para el tratamiento específico. A continuación, se presenta el caso de una paciente previamente sana, inmunocompetente y sin factores de riesgo conocidos para la infección por Nocardia spp., con evidencia de compromiso en el parénquima pulmonar y la piel, que posteriormente desarrolló varios abscesos cerebrales.


Asunto(s)
Absceso Encefálico/microbiología , Nocardiosis/diagnóstico , Neumonía Bacteriana/diagnóstico , Antibacterianos/uso terapéutico , Absceso Encefálico/diagnóstico por imagen , Absceso Encefálico/tratamiento farmacológico , Ceftriaxona/uso terapéutico , Quimioterapia Combinada , Femenino , Cefalea/etiología , Humanos , Inmunocompetencia , Imagen por Resonancia Magnética , Persona de Mediana Edad , Neuroimagen , Nocardiosis/tratamiento farmacológico , Neumonía Bacteriana/complicaciones , Neumonía Bacteriana/diagnóstico por imagen , Atelectasia Pulmonar/diagnóstico por imagen , Atelectasia Pulmonar/etiología , Tomografía Computarizada por Rayos X , Combinación Trimetoprim y Sulfametoxazol/uso terapéutico
19.
Biomédica (Bogotá) ; 40(1): 27-33, ene.-mar. 2020. graf
Artículo en Español | LILACS | ID: biblio-1089102

RESUMEN

La infección por Nocardia spp. no es común en pacientes inmunocompetentes. El tratamiento antimicrobiano empírico dirigido según las regiones anatómicas, no contempla las particularidades del germen y el análisis microbiológico se hace necesario para el tratamiento específico. A continuación, se presenta el caso de una paciente previamente sana, inmunocompetente y sin factores de riesgo conocidos para la infección por Nocardia spp., con evidencia de compromiso en el parénquima pulmonar y la piel, que posteriormente desarrolló varios abscesos cerebrales.


The infection by Nocardia spp is not common in immunocompetent patients. The empirical antimicrobial treatment directed by anatomical regions does not contemplate the particularities of the germ and the microbiological analysis is necessary for the specific treatment. We present the case of a previously healthy and immunocompetent patient, without known risk factors for Nocardia spp. infection, with evidence of involvement of the pulmonary parenchyma and the skin and subsequent development of multiple brain abscesses.


Asunto(s)
Absceso Encefálico , Nocardia , Enfermedades Cutáneas Infecciosas , Antibacterianos , Nocardiosis
20.
Artículo en Inglés | MEDLINE | ID: mdl-31737613

RESUMEN

An abdominal aortic aneurysm (AAA) is a focal dilation of the abdominal aorta, that if not treated, tends to grow and may rupture. The most common treatment for AAAs is the endovascular aneurysm repair (EVAR), which requires that patients undergo Computed Tomography Angiography (CTA)-based post-operative lifelong surveillance due to the possible appearance of complications. These complications may again lead to AAA dilation and rupture. However, there is a lack of advanced quantitative image-analysis tools to support the clinicians in the follow-up. Currently, the approach is to evaluate AAA diameter changes along time to infer the progress of the patient and the post-operative risk of AAA rupture. An increased AAA diameter is usually associated with a higher rupture risk, but there are some small AAAs that rupture, whereas other larger aneurysms remain stable. This means that the diameter-based rupture risk assessment is not suitable for all the cases, and there is increasing evidence that the biomechanical behavior of the AAA may provide additional valuable information regarding the progression of the disease and the risk of rupture. Hence, we propose a promising methodology for post-operative CTA time-series registration and subsequent aneurysm biomechanical strain analysis. From these strains, quantitative image-based descriptors are extracted using a principal component analysis of the tensile and compressive strain fields. Evaluated on 22 patients, our approach yields a mean area under the curve of 88.6% when correlating the strain-based quantitative descriptors with the long-term patient prognosis. This suggests that the strain information directly extracted from the CTA images is able to capture the biomechanical behavior of the aneurysm without relying on finite element modeling and simulation. Furthermore, the extracted descriptors set the basis for possible future imaging biomarkers that may be used in clinical practice. Apart from the diameter, these biomarkers may be used to assess patient prognosis and to enable informed decision making after an EVAR intervention, especially in difficult uncertain cases.

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