Differences in Exercise Capacity, Ventilatory Efficiency, and Gas Exchange between Patients with Pulmonary Arterial Hypertension and Chronic Thromboembolic Pulmonary Hypertension Residing at High Altitude.

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.

Mutational spectrum and genotype-phenotype correlation in Mexican patients with infantile-onset and late-onset Pompe disease.

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.

Self-sealing atrio-oesophageal fistula as a complication of pulmonary vein isolation: a case report.

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.

Knowledge, attitudes, and perceptions of health care providers regarding the recommendation and use of long-acting reversible contraceptive devices for adolescent patients.

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.

Impacto clínico de un grupo de discusión multidisciplinaria en el diagnóstico de fibrosis pulmonar idiopática en Colombia / Clinical impact of a multidisciplinary discussion group on the diagnosis of idiopathic pulmonary fibrosis in Colombia

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).

Consenso Colombiano para la prevención, diagnóstico y manejo de condiciones trombóticas en pacientes adultos con COVID-19: aplicando el Marco de la Evidencia a la Decisión (EtD) GRADE / Colombian consensus for the prevention, diagnosis and treatment of thrombotic conditions in adult patients with COVID-19: applying GRADE Evidence to Decision (EtD) Frameworks

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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.

Una neumonía complicada por un germen inusual: Reporte de caso / A pneumonia complicated by an unusual germ: Case report

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.

Clinical and molecular evidence of possible digenic inheritance for MFN2/GDAP1 genes in Charcot-Marie-Tooth disease.

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.

Consenso colombiano para la prevención, el diagnóstico y el tratamiento de condiciones trombóticas en adultos con COVID-19: aplicando el Marco de la Evidencia a la Decisión (EtD) GRADE / Colombian consensus for the prevention, diagnosis and treatment of thrombotic conditions in adults with COVID-19: applying GRADE Evidence to Decision (EtD) Frameworks

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.

Acute tubulointerstitial nephritis due to the use of rifampicin. case report

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.

Multiple brain abscesses due to Nocardia spp. in an immunocompetent patient / [Abscesos cerebrales por Nocardia spp. en una paciente inmunocompetente].

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.

Abscesos cerebrales por Nocardia spp. en una paciente inmunocompetente / Multiple brain abscesses due to Nocardia spp. in an immunocompetent patient

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.

Optical Enhancement of Exoskeleton-Based Estimation of Glenohumeral Angles.

In Robot-Assisted Rehabilitation (RAR) the accurate estimation of the patient limb joint angles is critical for assessing therapy efficacy. In RAR, the use of classic motion capture systems (MOCAPs) (e.g., optical and electromagnetic) to estimate the Glenohumeral (GH) joint angles is hindered by the exoskeleton body, which causes occlusions and magnetic disturbances. Moreover, the exoskeleton posture does not accurately reflect limb posture, as their kinematic models differ. To address the said limitations in posture estimation, we propose installing the cameras of an optical marker-based MOCAP in the rehabilitation exoskeleton. Then, the GH joint angles are estimated by combining the estimated marker poses and exoskeleton Forward Kinematics. Such hybrid system prevents problems related to marker occlusions, reduced camera detection volume, and imprecise joint angle estimation due to the kinematic mismatch of the patient and exoskeleton models. This paper presents the formulation, simulation, and accuracy quantification of the proposed method with simulated human movements. In addition, a sensitivity analysis of the method accuracy to marker position estimation errors, due to system calibration errors and marker drifts, has been carried out. The results show that, even with significant errors in the marker position estimation, method accuracy is adequate for RAR.

Inverse Kinematics for Upper Limb Compound Movement Estimation in Exoskeleton-Assisted Rehabilitation.

Robot-Assisted Rehabilitation (RAR) is relevant for treating patients affected by nervous system injuries (e.g., stroke and spinal cord injury). The accurate estimation of the joint angles of the patient limbs in RAR is critical to assess the patient improvement. The economical prevalent method to estimate the patient posture in Exoskeleton-based RAR is to approximate the limb joint angles with the ones of the Exoskeleton. This approximation is rough since their kinematic structures differ. Motion capture systems (MOCAPs) can improve the estimations, at the expenses of a considerable overload of the therapy setup. Alternatively, the Extended Inverse Kinematics Posture Estimation (EIKPE) computational method models the limb and Exoskeleton as differing parallel kinematic chains. EIKPE has been tested with single DOF movements of the wrist and elbow joints. This paper presents the assessment of EIKPE with elbow-shoulder compound movements (i.e., object prehension). Ground-truth for estimation assessment is obtained from an optical MOCAP (not intended for the treatment stage). The assessment shows EIKPE rendering a good numerical approximation of the actual posture during the compound movement execution, especially for the shoulder joint angles. This work opens the horizon for clinical studies with patient groups, Exoskeleton models, and movements types.

Upper limb posture estimation in robotic and virtual reality-based rehabilitation.

New motor rehabilitation therapies include virtual reality (VR) and robotic technologies. In limb rehabilitation, limb posture is required to (1) provide a limb realistic representation in VR games and (2) assess the patient improvement. When exoskeleton devices are used in the therapy, the measurements of their joint angles cannot be directly used to represent the posture of the patient limb, since the human and exoskeleton kinematic models differ. In response to this shortcoming, we propose a method to estimate the posture of the human limb attached to the exoskeleton. We use the exoskeleton joint angles measurements and the constraints of the exoskeleton on the limb to estimate the human limb joints angles. This paper presents (a) the mathematical formulation and solution to the problem, (b) the implementation of the proposed solution on a commercial exoskeleton system for the upper limb rehabilitation, (c) its integration into a rehabilitation VR game platform, and (d) the quantitative assessment of the method during elbow and wrist analytic training. Results show that this method properly estimates the limb posture to (i) animate avatars that represent the patient in VR games and (ii) obtain kinematic data for the patient assessment during elbow and wrist analytic rehabilitation.