Hemoptysis after COVID-19 and the importance of differential diagnosis: Birt-Hogg-Dubé syndrome / Hemoptisis luego de COVID-19 y la importancia de los diagnósticos diferenciales: Síndrome de Birt-Hogg-Dubé

Abstract Birt-Hogg-Dubé syndrome is a genodermatosis of auto somal 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 hemop tysis 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 evi dence of thoracic skin lesions which a skin biopsy was performed on. The results were compatible with fibrofol liculoma. 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 mu tation of the FLCN gene in heterozygosis classified as pathognomonic of Birt-Hogg-Dubé syndrome. Patient is currently under clinical follow-up while genetic counsel ing was requested for relatives.

Resumen El síndrome de Birt-Hogg-Dubé es una genoderma tosis 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 sisté micas, 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 des pués 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. Actual mente el paciente se encuentra en seguimiento clínico mientras se solicitó estudio genético para familiares.

Hemoptysis after COVID-19 and the importance of differential diagnosis: Birt-Hogg-Dubé syndrome.

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.

[Chronic eosinophilic pneumonia: imaging findings]. / Neumonía eosinofílica crónica: hallazgos en imágenes.

Chronic eosinophilic pneumonia (CEP) is a rare disease of unknown cause characterized by alveolar and interstitial eosinophilic infiltration. The tomographic pattern is characterized by consolidations and peripherally distributed ground glass opacities in both upper lobes. Other findings are opacities in bands parallel to the pleura, thickening of the interlobular septa, migratory opacities, and mediastinal lymph nodes. We presented a case of a woman with CEP and described the most relevant clinical and radiological characteristics.

La neumonía eosinofílica crónica (NEC) es una enfermedad rara de causa desconocida caracterizada por infiltración eosinofílica alveolar e intersticial. El patrón tomográfico se caracteriza por consolidaciones y opacidades en vidrio esmerilado de distribución periférica en ambos lóbulos superiores. Otros hallazgos son las opacidades en bandas paralelas a la pleura, engrosamiento de septos interlobulillares, opacidades migratrices y adenomegalias mediastinales. Se presenta el caso de una mujer con NEC y se describen las características clínicas y radiológicas más relevantes.

Chest x-ray automated triage: A semiologic approach designed for clinical implementation, exploiting different types of labels through a combination of four Deep Learning architectures.

BACKGROUND AND OBJECTIVES: The multiple chest x-ray datasets released in the last years have ground-truth labels intended for different computer vision tasks, suggesting that performance in automated chest x-ray interpretation might improve by using a method that can exploit diverse types of annotations. This work presents a Deep Learning method based on the late fusion of different convolutional architectures, that allows training with heterogeneous data with a simple implementation, and evaluates its performance on independent test data. We focused on obtaining a clinically useful tool that could be successfully integrated into a hospital workflow. MATERIALS AND METHODS: Based on expert opinion, we selected four target chest x-ray findings, namely lung opacities, fractures, pneumothorax and pleural effusion. For each finding we defined the most suitable type of ground-truth label, and built four training datasets combining images from public chest x-ray datasets and our institutional archive. We trained four different Deep Learning architectures and combined their outputs with a late fusion strategy, obtaining a unified tool. The performance was measured on two test datasets: an external openly-available dataset, and a retrospective institutional dataset, to estimate performance on the local population. RESULTS: The external and local test sets had 4376 and 1064 images, respectively, for which the model showed an area under the Receiver Operating Characteristics curve of 0.75 (95%CI: 0.74-0.76) and 0.87 (95%CI: 0.86-0.89) in the detection of abnormal chest x-rays. For the local population, a sensitivity of 86% (95%CI: 84-90), and a specificity of 88% (95%CI: 86-90) were obtained, with no significant differences between demographic subgroups. We present examples of heatmaps to show the accomplished level of interpretability, examining true and false positives. CONCLUSION: This study presents a new approach for exploiting heterogeneous labels from different chest x-ray datasets, by choosing Deep Learning architectures according to the radiological characteristics of each pathological finding. We estimated the tool's performance on the local population, obtaining results comparable to state-of-the-art metrics. We believe this approach is closer to the actual reading process of chest x-rays by professionals, and therefore more likely to be successful in a real clinical setting.

Criobiopsia en enfermedades pulmonares intersticiales difusas. Experiencia en un centro de Argentina / Cryobiopsy in interstitial lung disease: a real-life experience from a single center in Argentina

Resumen La criobiopsia transbronquial pulmonar (CBTB) ha sido introducida recientemente para el diagnóstico histológico de las enfermedades pulmonares intersticiales difusas (EPID). Nuestro objetivo fue evaluar el rédito diagnóstico y la seguridad de la CBTB para EPID en un centro de tercer nivel, en Buenos Aires, Argentina. Se efectuó una revisión retrospectiva de sujetos a los que se les realizó una CBTB en este centro desde septiembre de 2016 a noviembre de 2019. Se registró la información referida al paciente, el procedimiento y sus complicaciones, el diagnóstico histológico y multidisciplinario. Se analizaron potenciales factores asociados a diagnóstico y complicaciones por regresión logística. Se incluyeron 52 pacientes. La media de muestras fue 5.7 (DE 1.7) con una mediana de diámetro de 6 mm (rango intercuartil 6-8). Trece (25%) enfermos desarrollaron neumotórax sin encontrarse casos de sangrado grave o muerte. El rédito diagnóstico fue de 73.1% y 84.5% para la histología y la evaluación multidisciplinaria respectivamente. El número de muestras se asoció al rédito diagnóstico en el análisis multivariado (OR 2.15 -IC95% 1.16-3.99). La CBTB parece ser segura y efectiva para la evaluación de las EPID en la práctica al aplicarse en un centro con acceso a evaluación multidisciplinaria.

Abstract Transbronchial lung cryobiopsy (TBLC) has been recently introduced for the histological assessment of interstitial lung diseases. The objectives were to assess the diagnostic yield and safety of TBLC for interstitial lung diseases in our setting. A retrospective review of subjects who underwent TBLC in a tertiary care center from September 2016 to November 2019 was performed. Data regarding subject and procedure characteristics, complications, histopathological and multidisciplinary diagnosis was recorded. Logistic regression was used to analyze potential factors associated to diagnosis and complications. A total of 52 subjects were included. Mean number of samples was 5.7 (SD 1.7) with a median sample diameter of 6 mm (interquartile range 6-8). Pneumothorax developed in 13 (25%) participants, and no cases of severe bleeding or death were registered. A 73.1% and 84.5% diagnostic yield was recorded through histology and added multidisciplinary evaluation respectively. The number of samples was associated to the diagnostic yield in a multivariate analysis (OR 2.15 -CI95% 1.163.99). TBLC appears to be safe and effective for the assessment of interstitial lung diseases in a real life setting when applied in a center with access to multidisciplinary evaluation.

[Cryobiopsy in interstitial lung disease: a real-life experience from a single center in Argentina]. / Criobiopsia en enfermedades pulmonares intersticiales difusas. Experiencia en un Centro de Argentina.

Cryobiopsy in interstitial lung disease: a real-life experience from a single center in Argentina. Transbronchial lung cryobiopsy (TBLC) has been recently introduced for the histological assessment of interstitial lung diseases. The objectives were to assess the diagnostic yield and safety of TBLC for interstitial lung diseases in our setting. A retrospective review of subjects who underwent TBLC in a tertiary care center from September 2016 to November 2019 was performed. Data regarding subject and procedure characteristics, complications, histopathological and multidisciplinary diagnosis was recorded. Logistic regression was used to analyze potential factors associated to diagnosis and complications. A total of 52 subjects were included. Mean number of samples was 5.7 (SD 1.7) with a median sample diameter of 6 mm (interquartile range 6-8). Pneumothorax developed in 13 (25%) participants, and no cases of severe bleeding or death were registered. A 73.1% and 84.5% diagnostic yield was recorded through histology and added multidisciplinary evaluation respectively. The number of samples was associated to the diagnostic yield in a multivariate analysis (OR 2.15 - CI95% 1.16- 3.99). TBLC appears to be safe and effective for the assessment of interstitial lung diseases in a real life setting when applied in a center with access to multidisciplinary evaluation.

La criobiopsia transbronquial pulmonar (CBTB) ha sido introducida recientemente para el diagnóstico histológico de las enfermedades pulmonares intersticiales difusas (EPID). Nuestro objetivo fue evaluar el rédito diagnóstico y la seguridad de la CBTB para EPID en un centro de tercer nivel, en Buenos Aires, Argentina. Se efectuó una revisión retrospectiva de sujetos a los que se les realizó una CBTB en este centro desde septiembre de 2016 a noviembre de 2019. Se registró la información referida al paciente, el procedimiento y sus complicaciones, el diagnóstico histológico y multidisciplinario. Se analizaron potenciales factores asociados a diagnóstico y complicaciones por regresión logística. Se incluyeron 52 pacientes. La media de muestras fue 5.7 (DE 1.7) con una mediana de diámetro de 6 mm (rango intercuartil 6-8). Trece (25%) enfermos desarrollaron neumotórax sin encontrarse casos de sangrado grave o muerte. El rédito diagnóstico fue de 73.1% y 84.5% para la histología y la evaluación multidisciplinaria respectivamente. El número de muestras se asoció al rédito diagnóstico en el análisis multivariado (OR 2.15 ­ IC95% 1.16-3.99). La CBTB parece ser segura y efectiva para la evaluación de las EPID en la práctica al aplicarse en un centro con acceso a evaluación multidisciplinaria.

Hallazgos por imágenes en COVID-19: actualización y guía práctica / Imaging findings in COVID-19: update and practical guide

El cuadro clínico de la enfermedad conocida como COVID-19, causada por el nuevo coronavirus SARS-CoV-2 puede variar desde síntomas respiratorios leves hasta una insuficiencia respiratoria severa. Sus efectos en el organismo, especialmente la afección pulmonar, pueden ser visualizados a través de los estudios por imágenes. Si bien el diagnóstico de certeza se confirma mediante la reacción en cadena de la polimerasa con transcriptasa reversa (RT-PCR), los estudios por imágenes, especialmente la radiografía y la tomografía computarizada (TC) de tórax, desempeñan un papel fundamental en el manejo clínico de estos pacientes. Conocer su utilidad, casos de uso y hallazgos esperables brinda herramientas para el equipo de salud, temas que serán abordados en esta actualización y guía práctica. (AU)

The clinical pattern of the disease known as COVID-19, caused by the new coronavirus SARS-Cov-2 can range from mild respiratory symptoms to severe respiratory failure. Its effects on the body, especially the lung condition, can be visualized through imaging studies. While the diagnosis of certainty is confirmed by reverse transcriptase-polymerase chain reaction (RT-PCR), imaging studies, especially chest xray and computed tomography (CT), play a critical role in the clinical management of these patients. Knowing their usefulness, use cases, and expected findings provides tools for the health care team, topics that will be addressed in this update, and practical guide. (AU)

[COVID-19 pneumonia: Tomographic findings]. / Neumonía por COVID-19: hallazgos tomográficos.

Coronavirus disease (COVID-19) has spread worldwide and has become a priority health problem. We described a case of a patient with COVID-19 and the main characteristics of imaging findings.

La enfermedad por coronavirus (COVID-19) se ha expandido mundialmente y convertido en un problema prioritario de salud a nivel mundial. Se presenta el caso de un paciente con COVID-19 y se describen las características radiológicas más relevantes.

Valor pronóstico de la invasión vascular extramural por resonancia magnética en pacientes con cáncer de recto: cohorte retrospectiva / Prognostic value of extramural vascular invasion by magnetic resonance imaging in patients with rectal cancer: retrospective cohort

El objetivo fue evaluar si existe asociación entre la presencia del signo de invasión vascular extramural constatado por resonancia magnética (IVErm) con el período libre de enfermedad (PLE) a los 3 años, en pacientes con cáncer de recto (CR). Se realizó un estudio de cohorte retrospectiva. Se incluyeron 64 pacientes seguidos en nuestra institución con diagnóstico histológico de CR, evaluados inicialmente con RM, los cuales recibieron esquema de quimio-radioterapia neoadyuvante y cirugía curativa. Se analizó, mediante un análisis multivariable a través de una regresión de Cox, para ajustar por potenciales variables de confusión como la estadificación por tamaño tumoral (Trm) en la resonancia magnética (RM) basal, la asociación entre IVErm y el PLE a los tres años. Treinta pacientes (49.5%) sufrieron progresión o recaída, de los cuales 20 (60.6%) presentaron signos de IVErm. La presencia de IVErm se asoció con duplicación del riesgo de mala evolución (HR: 2.11; p = 0.054; IC: 1.00 - 4.51). Luego de ajustar por Trm esta tendencia se mantuvo. La presencia del signo IVErm se asocia con disminución del PLE a 3 años. Es mandatorio incorporarlo en los informes radiológicos a fin de contribuir al manejo de dicho grupo de pacientes (AU)

The aim was to evaluate whether there is an association between the presence of extramural vascular invasion sign found in the magnetic resonance (mrEMVI) and three years' disease-free survival (DFS) in patients with rectal cancer (RC). A retrospective cohort study was performed. Sixty four patients with proven RC, who had been initially evaluated with magnetic resonance (MR), had undergone neoadjuvant chemoradiotherapy and curative surgery, and had been followed for at least 3 years at our institution were included. Association between mrEMVI and reduced DFS was analyzed by logistic regression. Thirty patients (49.5 %) had reduced DFS, of whom 20 (60.6%) had signs of mrEMVI. The presence of mrEMVI duplicated the odds of reduced prognosis (HR: 2.11; 95% CI: 1.00 - 4.51; p < 0.054). The mrEMVI increases the likelihood of reduced DFS in patients with RC (AU)

Extensive mesenteric lipodystrophy of the left colon: case report and brief review of the literature.

Mesenteric lipodystrophy is a rare inflammatory process that predominantly affects mesenteric adipose tissue of the small bowell. Several mechanisms have been suggested as responsible for this entity although the precise etiolog remains unknown. The diagnosis is based on CT or MRI imaging and generally confirmed by surgical biopsies. Treatment is individualized and empiric and depends on disease stage and symptoms. We report a case of a 35-year-old male who was admitted to our hospital with a history of abdominal pain, constipation and a palpable mass in the left lower quadrant. Abdominal CT scan showed diffuse thickening of the descending and rectosigmoid colon, associated with increased density of the mesenteric fat. After failure ofan initial treat- ment with glucocorticoids, he underwent a laparoscopic sigmoidectomy. Histopatholog analysis revealed extensive stea- tonecrosis ofpericolonicfat and lipid-ladenfoamy cells which was consistent with the diagnosis of mesenteric lipodystrophy. Clinical presentation and treatment as well as a brief review of the literature are discussed.

[Magnetic resonance and extramural vascular invasion in patients with rectal cancer and liver metastases]. / Resonancia magnética e invasión vascular extramural en pacientes con cáncer rectal y metástasis hepaticas.

BACKGROUND: Extramural vascular invasion (EMVI) in patients with rectal cancer (RC) is associated with more locally advanced tumors, and independently predicts local and distant recurrence and poor overall survival. OBJETIVE: To determine the association between EMVI and synchronous liver metastases in patients with RC. METHODS: We performed a retrospective cohort study including patients with cancer of middle and lower rectum, which were evaluated with magnetic resonance (MRI) for initial staging in the period from January 2011 to January 2012 inclusive. All patients were evaluated with MRI for EMVI and were followed for a year to detect synchronous liver metastases by imaging methods (January 2012 to January 2013 inclusive). Multivariate analysis was performed by logistic regression. RESULTS: We included 68 patients. Twenty had liver metastases during the observation period (29.41%), of whom 15 had signs of MRI EMVI (75%). The incidence of synchronous liver metastases had a marginally significant association with the presence of EMVI (RR 3.35, 95% CI: 1.0001-11.2187, P = 0.050). CONCLUSION: The presence of MRI EVMI is a poor prognostic predictor factor of development of synchronous liver metastases in patients with RC.

[Pneumatosis cystoides intestinalis: a case report and review of the literature]. / Pneumatosis quística intestinalis: presentación de un caso y revisión de la literatura.

Pneumatosis cystoides intestinalis features the presence of subserum or submucous cysts with gas in the intestinal wall. Its prevalence is 0.03%, although it has increased in the past decades due to a greater use of colonoscopy in everyday medical practice. Though there are several theories about its origin and many associated diseases were reported, its pathogenesis still remains uncertain. It is generally diagnosed as a finding in an imaging test. The treatment depends on the severity of the associated disease and symptoms. We report the case of a 59-year-old woman, heavy smoker, with no other clinical conditions who took a medical consultation due to abdominal bloating. She underwent a screening colonoscopy which detected the existence of cysts on the colonic wall. Afterwards, a computed tomography was performed and showed apical lung bullae, gas in a colonic wall segment, and ascitis associated to a big anexial tumor. She underwent a cytoreductive surgery, confirming the presence of advanced ovary neoplasm. The endoscopic biopsy confirmed the diagnosis of penumatosis cystoides intestinalis. We report these case because it is a rare entity which requires uncommon management and treatment guidelines.

Pneumatosis quística intestinalis: presentación de un caso y revisión de la literatura / [Pneumatosis cystoides intestinalis: a case report and review of the literature].

Pneumatosis cystoides intestinalis features the presence of subserum or submucous cysts with gas in the intestinal wall. Its prevalence is 0.03

, although it has increased in the past decades due to a greater use of colonoscopy in everyday medical practice. Though there are several theories about its origin and many associated diseases were reported, its pathogenesis still remains uncertain. It is generally diagnosed as a finding in an imaging test. The treatment depends on the severity of the associated disease and symptoms. We report the case of a 59-year-old woman, heavy smoker, with no other clinical conditions who took a medical consultation due to abdominal bloating. She underwent a screening colonoscopy which detected the existence of cysts on the colonic wall. Afterwards, a computed tomography was performed and showed apical lung bullae, gas in a colonic wall segment, and ascitis associated to a big anexial tumor. She underwent a cytoreductive surgery, confirming the presence of advanced ovary neoplasm. The endoscopic biopsy confirmed the diagnosis of penumatosis cystoides intestinalis. We report these case because it is a rare entity which requires uncommon management and treatment guidelines.

Pneumatosis quística intestinalis: presentación de un caso y revisión de la literatura. / [Pneumatosis cystoides intestinalis: a case report and review of the literature].

Pneumatosis cystoides intestinalis features the presence of subserum or submucous cysts with gas in the intestinal wall. Its prevalence is 0.03

, although it has increased in the past decades due to a greater use of colonoscopy in everyday medical practice. Though there are several theories about its origin and many associated diseases were reported, its pathogenesis still remains uncertain. It is generally diagnosed as a finding in an imaging test. The treatment depends on the severity of the associated disease and symptoms. We report the case of a 59-year-old woman, heavy smoker, with no other clinical conditions who took a medical consultation due to abdominal bloating. She underwent a screening colonoscopy which detected the existence of cysts on the colonic wall. Afterwards, a computed tomography was performed and showed apical lung bullae, gas in a colonic wall segment, and ascitis associated to a big anexial tumor. She underwent a cytoreductive surgery, confirming the presence of advanced ovary neoplasm. The endoscopic biopsy confirmed the diagnosis of penumatosis cystoides intestinalis. We report these case because it is a rare entity which requires uncommon management and treatment guidelines.