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1.
Medicina (B Aires) ; 83(2): 311-314, 2023.
Article in English | MEDLINE | ID: covidwho-2302821

ABSTRACT

Birt-Hogg-Dubé syndrome is a genodermatosis of autosomal dominant inheritance characterized by mutations in the folliculin (FLCN) gene. There is an inappropriate inhibition/activation of a protein, the foliculin, which may cause tumor lesions in skin, renal and lung lesions; they could have more risk of developing pneumothorax compared to the normal population. A 38-year-old male patient with bronchial asthma who consulted for hemoptysis three weeks after recovery from COVID-19 infection. A chest tomography was requested, showing an air cyst in the left lower lobe. Physical examination shows evidence of thoracic skin lesions which a skin biopsy was performed on. The results were compatible with fibrofolliculoma. Differential diagnoses were proposed. A genetic disorder associated with skin lesions was suspected. A multi-genetic panel that includes BRCA1, BRCA2, TP53 and FLCN genes was requested, which reported the mutation of the FLCN gene in heterozygosis classified as pathognomonic of Birt-Hogg-Dubé syndrome. Patient is currently under clinical follow-up while genetic counseling was requested for relatives.


El síndrome de Birt-Hogg-Dubé es una genodermatosis de herencia autosómica dominante caracterizada por mutaciones en el gen foliculina (FLCN), donde existe inhibición/activación inapropiada de una proteína, la foliculina, que puede causar lesiones tumorales sistémicas, principalmente a nivel de la piel, renal y lesiones pulmonares, presentando mayor riesgo de desarrollar neumotórax en comparación con la población normal. Comunicamos el caso de un varón de 38 años con asma bronquial que consultó por hemoptisis 3 semanas después de la recuperación de la infección por COVID-19. Se solicitó una tomografía de tórax, que mostró un quiste aéreo en el lóbulo inferior izquierdo. Además, presentaba en el examen físico una lesión cutánea que fue biopsiada, presentando diagnóstico de foliculoma. Se plantearon diagnósticos diferenciales y ante la sospecha de probable desorden genético, un panel genético fue solicitado. Se confirmó síndrome de Birt-Hogg-Dubé ante el hallazgo de la deleción heterocigota que comprende el exón 1 del gen FLCN clasificada como patogénica. Actualmente el paciente se encuentra en seguimiento clínico mientras se solicitó estudio genético para familiares.


Subject(s)
Birt-Hogg-Dube Syndrome , COVID-19 , Pneumothorax , Male , Humans , Adult , Birt-Hogg-Dube Syndrome/diagnosis , Birt-Hogg-Dube Syndrome/genetics , Birt-Hogg-Dube Syndrome/pathology , Hemoptysis , Tumor Suppressor Proteins/genetics , Pneumothorax/genetics
2.
Acta Colombiana de Cuidado Intensivo ; 2023.
Article in Spanish | EuropePMC | ID: covidwho-2252309

ABSTRACT

Antecedentes: El tránsito transpulmonar de burbujas (TTPB) detectado con ecocardiografía de contraste se reporta como un signo de cortocircuito arteriovenoso intrapulmonar. Sin embargo, su significado patológico no está claro durante el síndrome de dificultad respiratoria aguda (SDRA) secundario a enfermedad por coronavirus-2019 (COVID-19). Nuestro objetivo fue determinar la prevalencia y la importancia clínica de la detección de TTPB durante el SDRA por COVID-19. Métodos: Estudio observacional prospectivo realizado en una unidad de cuidados intensivos de alta complejidad de Argentina. Los pacientes con SDRA por COVID-19 se sometieron a una ecocardiografía transtorácica con contraste salino. El TTPB moderado a grande se definió como el paso de derecha a izquierda de al menos doce burbujas aéreas a las cavidades cardíacas izquierdas después de al menos tres ciclos cardíacos con opacificación completa de la aurícula derecha. Resultados: Se analizaron los resultados de 28 pacientes (24 hombres y 4 mujeres). El setenta y cinco por ciento de los pacientes recibieron ventilación mecánica invasiva. Se detectó TTPB moderado a grande en 1 paciente (3,5%). Entre los 27 pacientes sin TTPB significativo, 23 no tenían TTPB y 4 tenían un TTPB menor. La TTPB no se asoció con la necesidad de ventilación mecánica invasiva (p = 0,5737) ni con la mortalidad hospitalaria (p = 1). Conclusiones: la TTPB no se asoció con hipoxemia grave o necesidad de ventilación mecánica invasiva, aunque se necesitan más estudios para aclarar el papel contributivo en la hipoxemia por COVID-19.

3.
Surgery ; 173(4): 944-949, 2023 04.
Article in English | MEDLINE | ID: covidwho-2239529

ABSTRACT

BACKGROUND: Assessment of the efficacy and complications associated with performing bronchoscopy-guided percutaneous tracheostomy in COVID-19 and non-COVID-19 patients. METHODS: Prospective observational study conducted between March of 2020 and February of 2022. All adult patients who underwent elective bronchoscopy-guided percutaneous tracheostomy were included. The efficacy of the procedure was evaluated based either on the success rate in the execution or on the need for conversion to open technique. Percutaneous tracheostomy-related complications were registered during the procedure. We performed 6-month follow-up for identifying late complications. RESULTS: During the study period, 312 bronchoscopy-guided percutaneous tracheostomies were analyzed. One hundred and eighty-three were performed in COVID-19 patients and 129 among non-COVID-19 patients. Overall, 64.1% (200) of patients were male, with a median age of 66 (interquartile range 54-74), and 65% (205) presented at least 1 comorbidity. Overall, oxygen desaturation was the main complication observed (20.8% [65]), being more frequent in the COVID-19 group occurring in 27.3% (50) with a statistically significant difference versus the non-COVID-19 patients' group (11.6% [15]); P < .01). Major complications such as hypotension, arrhythmias, and pneumothorax were more frequently observed among COVID-19 patients as well but with no significant differences. Percutaneous tracheostomy could be executed quickly and satisfactorily in all the patients with no need for conversion to the open technique. Likewise, no suspension of the procedure was required in any case. During 6-month follow-up, we found an incidence of 0.96% (n = 3) late complications, 2 tracheal granulomas, and 1 ostomal infection. CONCLUSION: Bronchoscopy-guided percutaneous tracheostomy can be considered an effective and safe procedure in COVID-19 patients. Nevertheless, it is highly remarkable that in the series under study, a great number of COVID-19 patients presented oxygen desaturation during the procedure.


Subject(s)
COVID-19 , Tracheostomy , Adult , Humans , Male , Female , Bronchoscopy/methods , Pandemics , COVID-19/epidemiology , Postoperative Complications/epidemiology , Oxygen
4.
J Med Internet Res ; 25: e43293, 2023 04 03.
Article in English | MEDLINE | ID: covidwho-2224674

ABSTRACT

BACKGROUND: Many people attending primary care (PC) have anxiety-depressive symptoms and work-related burnout compounded by a lack of resources to meet their needs. The COVID-19 pandemic has exacerbated this problem, and digital tools have been proposed as a solution. OBJECTIVE: We aimed to present the development, feasibility, and potential effectiveness of Vickybot, a chatbot aimed at screening, monitoring, and reducing anxiety-depressive symptoms and work-related burnout, and detecting suicide risk in patients from PC and health care workers. METHODS: Healthy controls (HCs) tested Vickybot for reliability. For the simulation study, HCs used Vickybot for 2 weeks to simulate different clinical situations. For feasibility and effectiveness study, people consulting PC or health care workers with mental health problems used Vickybot for 1 month. Self-assessments for anxiety (Generalized Anxiety Disorder 7-item) and depression (Patient Health Questionnaire-9) symptoms and work-related burnout (based on the Maslach Burnout Inventory) were administered at baseline and every 2 weeks. Feasibility was determined from both subjective and objective user-engagement indicators (UEIs). Potential effectiveness was measured using paired 2-tailed t tests or Wilcoxon signed-rank test for changes in self-assessment scores. RESULTS: Overall, 40 HCs tested Vickybot simultaneously, and the data were reliably transmitted and registered. For simulation, 17 HCs (n=13, 76% female; mean age 36.5, SD 9.7 years) received 98.8% of the expected modules. Suicidal alerts were received correctly. For the feasibility and potential effectiveness study, 34 patients (15 from PC and 19 health care workers; 76% [26/34] female; mean age 35.3, SD 10.1 years) completed the first self-assessments, with 100% (34/34) presenting anxiety symptoms, 94% (32/34) depressive symptoms, and 65% (22/34) work-related burnout. In addition, 27% (9/34) of patients completed the second self-assessment after 2 weeks of use. No significant differences were found between the first and second self-assessments for anxiety (t8=1.000; P=.34) or depressive (t8=0.40; P=.70) symptoms. However, work-related burnout scores were moderately reduced (z=-2.07, P=.04, r=0.32). There was a nonsignificant trend toward a greater reduction in anxiety-depressive symptoms and work-related burnout with greater use of the chatbot. Furthermore, 9% (3/34) of patients activated the suicide alert, and the research team promptly intervened with successful outcomes. Vickybot showed high subjective UEI (acceptability, usability, and satisfaction), but low objective UEI (completion, adherence, compliance, and engagement). Vickybot was moderately feasible. CONCLUSIONS: The chatbot was useful in screening for the presence and severity of anxiety and depressive symptoms, and for detecting suicidal risk. Potential effectiveness was shown to reduce work-related burnout but not anxiety or depressive symptoms. Subjective perceptions of use contrasted with low objective-use metrics. Our results are promising but suggest the need to adapt and enhance the smartphone-based solution to improve engagement. A consensus on how to report UEIs and validate digital solutions, particularly for chatbots, is required.


Subject(s)
Burnout, Professional , COVID-19 , Humans , Female , Adult , Male , Depression/diagnosis , Depression/psychology , Pandemics , Feasibility Studies , Reproducibility of Results , Health Personnel , Primary Health Care
5.
Nat Commun ; 13(1): 3645, 2022 06 25.
Article in English | MEDLINE | ID: covidwho-1908172

ABSTRACT

Recombination is an evolutionary process by which many pathogens generate diversity and acquire novel functions. Although a common occurrence during coronavirus replication, detection of recombination is only feasible when genetically distinct viruses contemporaneously infect the same host. Here, we identify an instance of SARS-CoV-2 superinfection, whereby an individual was infected with two distinct viral variants: Alpha (B.1.1.7) and Epsilon (B.1.429). This superinfection was first noted when an Alpha genome sequence failed to exhibit the classic S gene target failure behavior used to track this variant. Full genome sequencing from four independent extracts reveals that Alpha variant alleles comprise around 75% of the genomes, whereas the Epsilon variant alleles comprise around 20% of the sample. Further investigation reveals the presence of numerous recombinant haplotypes spanning the genome, specifically in the spike, nucleocapsid, and ORF 8 coding regions. These findings support the potential for recombination to reshape SARS-CoV-2 genetic diversity.


Subject(s)
COVID-19 , Superinfection , Genome, Viral/genetics , Humans , New York City/epidemiology , Recombination, Genetic , SARS-CoV-2/genetics , Spike Glycoprotein, Coronavirus/genetics
6.
Virchows Arch ; 479(4): 827-833, 2021 Oct.
Article in English | MEDLINE | ID: covidwho-1012211

ABSTRACT

We present results from clinical, radiologic, gas exchange, lung mechanics, and fibre-optic bronchoscopy-guided transbronchial biopsies in a case of acute respiratory failure due to SARS-CoV-2 (Covid-19). This report highlights the pulmonary, immunological, and inflammatory changes found during acute diffuse alveolar damage and the later organizing phase. An early diffuse alveolar damage pattern with predominant epithelial involvement with active recruitment of T cells and monocytes was observed followed by a late organizing pattern with pneumocyte hyperplasia, inflammatory infiltration, prominent endotheliitis, and secondary germinal centers. The patient's deterioration paralleling the late immuno-pathological findings based the decision to administer intravenous corticosteroids, resulting in clinical, gasometric, and radiologic improvement. We believe that real-time clinicopathological correlation, along with the description of the immunological processes at play, will contribute to the full clinical picture of Covid-19 and might lead to a more rational approach in the precise timing of anti-inflammatory, anti-cytokine, or steroid therapies.


Subject(s)
Bronchi/pathology , COVID-19 Drug Treatment , Steroids/therapeutic use , Aged , Alveolar Epithelial Cells/metabolism , Alveolar Epithelial Cells/virology , Biopsy/methods , Bronchi/virology , COVID-19/pathology , COVID-19/virology , Humans , Lung/pathology , Male , Pulmonary Alveoli/metabolism , Pulmonary Alveoli/virology , Respiratory Insufficiency/drug therapy , Respiratory Insufficiency/pathology , Respiratory Insufficiency/virology , SARS-CoV-2/isolation & purification
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