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array:22 [ "pii" => "S0300289624003740" "issn" => "03002896" "doi" => "10.1016/j.arbres.2024.09.014" "estado" => "S100" "fechaPublicacion" => "2024-10-14" "aid" => "3663" "copyright" => "SEPAR" "copyrightAnyo" => "2024" "documento" => "simple-article" "crossmark" => 0 "subdocumento" => "crp" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:1 [ "total" => 0 ] "itemSiguiente" => array:16 [ "pii" => "S0300289624003727" "issn" => "03002896" "doi" => "10.1016/j.arbres.2024.09.012" "estado" => "S100" "fechaPublicacion" => "2024-10-14" "aid" => "3661" "documento" => "simple-article" "crossmark" => 0 "subdocumento" => "crp" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:1 [ "total" => 0 ] "en" => array:9 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Clinical Letter</span>" "titulo" => "Primary Pulmonary NUT Carcinoma: An Aggressive and Rare Tumor" "tienePdf" => "en" "tieneTextoCompleto" => "en" "contieneTextoCompleto" => array:1 [ "en" => true ] "contienePdf" => array:1 [ "en" => true ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:7 [ "identificador" => "fig0005" "etiqueta" => "Fig. 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 2840 "Ancho" => 1772 "Tamanyo" => 687446 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">(A) PET-CT scan depicting a large mass in the left upper lobe with extension to the mediastinal region and to the ipsilateral broncho-hilar region, as well as left pleural effusion. (B, C) Videobronchofibroscopy images: (B) Vegetant mass in the anterior traqueal wall, (C) Complete obstruction of left main broncus, (D) Pathological samples: H&E, ×40: Histological examination showed a highly cellular solid neoplasm, with sheets and nests of small to intermediate-sized undifferentiated cells with a monomorphic appearance; apoptosis and mitosis are seen; necrosis is frequent. Inset: NUT IHQ showing a diffuse granular nuclear positivity.</p>" ] ] ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "Beatriz Martins, Susana Guimarães, David Araújo" "autores" => array:3 [ 0 => array:2 [ "nombre" => "Beatriz" "apellidos" => "Martins" ] 1 => array:2 [ "nombre" => "Susana" "apellidos" => "Guimarães" ] 2 => array:2 [ "nombre" => "David" "apellidos" => "Araújo" ] ] ] ] ] "idiomaDefecto" => "en" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0300289624003727?idApp=UINPBA00003Z" "url" => "/03002896/unassign/S0300289624003727/v1_202410140402/en/main.assets" ] "itemAnterior" => array:16 [ "pii" => "S0300289612000968" "issn" => "03002896" "doi" => "10.1016/j.arbres.2012.02.017" "estado" => "S200" "fechaPublicacion" => "2013-05-08" "aid" => "621" "documento" => "simple-article" "crossmark" => 0 "subdocumento" => "ret" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:2 [ "total" => 348 "formatos" => array:2 [ "HTML" => 82 "PDF" => 266 ] ] "en" => array:8 [ "idiomaDefecto" => true "titulo" => "WITHDRAWN: Respiratory Muscle Assessment in Predicting Extubation Outcome in Patients With Stroke" "tienePdf" => "en" "tieneTextoCompleto" => 0 "tieneResumen" => "en" "contieneResumen" => array:1 [ "en" => true ] "contienePdf" => array:1 [ "en" => true ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "Antonio A.M. Castro, Felipe Cortopassi, Russell Sabbag, Luis Torre-Bouscoulet, Claudia Kümpel, Elias Ferreira Porto" "autores" => array:6 [ 0 => array:2 [ "nombre" => "Antonio A.M." "apellidos" => "Castro" ] 1 => array:2 [ "nombre" => "Felipe" "apellidos" => "Cortopassi" ] 2 => array:2 [ "nombre" => "Russell" "apellidos" => "Sabbag" ] 3 => array:2 [ "nombre" => "Luis" "apellidos" => "Torre-Bouscoulet" ] 4 => array:2 [ "nombre" => "Claudia" "apellidos" => "Kümpel" ] 5 => array:2 [ "nombre" => "Elias Ferreira" "apellidos" => "Porto" ] ] ] ] ] "idiomaDefecto" => "en" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0300289612000968?idApp=UINPBA00003Z" "url" => "/03002896/unassign/S0300289612000968/v2_201305131254/en/main.assets" ] "en" => array:13 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Clinical Letter</span>" "titulo" => "Pneumomediastinum as an Early Manifestation in Birt–Hogg–Dubé Syndrome" "tieneTextoCompleto" => true "saludo" => "To the Director," "autores" => array:1 [ 0 => array:4 [ "autoresLista" => "Bruno S. Silva, Sergio Alarcón-Sisamón, Guadalupe Bermudo, Santiago Bolívar, Belen del Río, Alex Teule, Ariadna Padró-Miquel, María Molina-Molina" "autores" => array:8 [ 0 => array:4 [ "nombre" => "Bruno S." "apellidos" => "Silva" "email" => array:1 [ 0 => "brunosilva.pneumologia@chporto.min-saude.pt" ] "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "cor0005" ] ] ] 1 => array:3 [ "nombre" => "Sergio" "apellidos" => "Alarcón-Sisamón" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] 2 => array:3 [ "nombre" => "Guadalupe" "apellidos" => "Bermudo" "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">c</span>" "identificador" => "aff0015" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">d</span>" "identificador" => "aff0020" ] ] ] 3 => array:3 [ "nombre" => "Santiago" "apellidos" => "Bolívar" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">e</span>" "identificador" => "aff0025" ] ] ] 4 => array:3 [ "nombre" => "Belen" "apellidos" => "del Río" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">e</span>" "identificador" => "aff0025" ] ] ] 5 => array:3 [ "nombre" => "Alex" "apellidos" => "Teule" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">f</span>" "identificador" => "aff0030" ] ] ] 6 => array:3 [ "nombre" => "Ariadna" "apellidos" => "Padró-Miquel" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">g</span>" "identificador" => "aff0035" ] ] ] 7 => array:3 [ "nombre" => "María" "apellidos" => "Molina-Molina" "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">c</span>" "identificador" => "aff0015" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">d</span>" "identificador" => "aff0020" ] ] ] ] "afiliaciones" => array:7 [ 0 => array:3 [ "entidad" => "Pulmonology Department, Unidade Local de Saúde de Santo António, Porto, Portugal" "etiqueta" => "a" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Respiratory Medicine Department, Hospital Miguel Servet, Zaragoza, Spain" "etiqueta" => "b" "identificador" => "aff0010" ] 2 => array:3 [ "entidad" => "Unidad de Intersticio Pulmonar, Servicio de Neumología, Hospital Universitario de Bellvitge, Insituto de Investigación Biomédica de Bellvitge (IDIBELL), Universidad de Barcelona (UB), Barcelona, Spain" "etiqueta" => "c" "identificador" => "aff0015" ] 3 => array:3 [ "entidad" => "Centro de Investigaciones en Red de Enfermedades Respiratorias (CIBERES), Spain" "etiqueta" => "d" "identificador" => "aff0020" ] 4 => array:3 [ "entidad" => "Interstitial Lung Disease Unit, Radiology Department, University Hospital of Bellvitge, Barcelona, Spain" "etiqueta" => "e" "identificador" => "aff0025" ] 5 => array:3 [ "entidad" => "Unidad de Consejo Genético, Institut Català d’Oncologia, Programa de Cáncer Hereditario, Instituto de Investigación Biomédica de Bellvitge (IDIBELL), Spain" "etiqueta" => "f" "identificador" => "aff0030" ] 6 => array:3 [ "entidad" => "Laboratory of Molecular Genetics, Instituto de Investigación Biomédica de Bellvitge (IDIBELL), Barcelona, Spain" "etiqueta" => "g" "identificador" => "aff0035" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:7 [ "identificador" => "fig0005" "etiqueta" => "Fig. 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 692 "Ancho" => 2437 "Tamanyo" => 197120 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">(A) Thoracic computerized tomography scan (coronal view) showing pneumomediastinum and subcutaneous emphysema; (B–D) Thoracic computerized tomography scans showing a cyst in the lower left lobe (yellow arrows), performed eight months before pneumomediastinum (B), during the pneumomediastinum episode (C) and eight months after (D).</p>" ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">Birt–Hogg–Dubé syndrome (BHDS) is a rare, multiorgan disorder that results from a pathogenic variant in the folliculin-encoding gene <span class="elsevierStyleItalic">FLCN</span>.<a class="elsevierStyleCrossRef" href="#bib0020"><span class="elsevierStyleSup">1</span></a> Some cases may be diagnosed before significant organ involvement.</p><p id="par0010" class="elsevierStylePara elsevierViewall">A 22-year-old male who began evaluation in a familial interstitial lung disease program since he carried the same <span class="elsevierStyleItalic">FLCN</span> likely pathogenic canonical splicing gene variant (NM_144997.7:c.1177-1G>A) as his grandmother, mother and uncle. He had no fibrofolliculomas, kidneys were normal, and a chest computerized tomography (CT) was reported as normal. He presented to the Emergency department six months later with a four-day history of swelling of the neck and anterior thorax, with crackling of the skin. A thoracic CT scan (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>) revealed extensive subcutaneous emphysema and pneumomediastinum; posterior analysis revealed a pericentimetric cyst in the lower left lobe (LLL; <a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>). He was conservatively managed and discharged four days later. A CT scan performed eight months later showed resolution of pneumomediastinum, with the cyst in the LLL present, slightly enlarged, as well as other smaller, lenticular, thin-walled cysts. A retrospective analysis of the initial CT scan through a careful reconstruction identified that cyst was already present. The patient is currently asymptomatic and follows regular functional and radiological controls.</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0015" class="elsevierStylePara elsevierViewall">BHDS is a rare autosomal dominant monogenic disorder, caused by pathogenic variants in the <span class="elsevierStyleItalic">FLCN</span> gene. It is characterized by the development of skin fibrofolliculomas, lung cysts and renal cancer.<a class="elsevierStyleCrossRefs" href="#bib0020"><span class="elsevierStyleSup">1,2</span></a> Although the increased risk of pneumothorax is well established, the occurrence of pneumomediastinum is not,<a class="elsevierStyleCrossRef" href="#bib0020"><span class="elsevierStyleSup">1</span></a> with only one previously published case of pneumomediastinum in a patient with BHDS.<a class="elsevierStyleCrossRef" href="#bib0020"><span class="elsevierStyleSup">1</span></a> Initial lung screening did not identify cysts and only a revision with image reconstruction identified a cyst next to an incomplete fissure, which could have caused the pneumomediastinum. This suggests that patients with BHDS may be at risk of cystic rupture, independently of their number or location, as the cysts are likely to progress in number and size. It is interesting to note that, although he is the youngest known carrier in the family, our patient was the first to present an acute event related to BHDS.</p><p id="par0020" class="elsevierStylePara elsevierViewall">A literary review attempted to establish recommendations for management of BHDS, stating that there is no clear indication for routine CT follow-up.<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">3</span></a> While there may not exist clear indications (especially due to the small number of patients), the importance of performing follow-up CT scans should be tailored and may be adequate in selected cases. There is currently no approved therapy for the treatment or prevention of cystic lung disease in BHDS; therefore, all carriers of pathogenic <span class="elsevierStyleItalic">FLCN</span> variants should be informed of their increased risk for complications such as pneumothorax and pneumomediastinum. The authors believe that patients should be given behavioral recommendations, regardless of disease severity, such as avoiding diving, high altitudes, smoking and chest trauma.</p><p id="par0025" class="elsevierStylePara elsevierViewall">In conclusion, our case highlights the need for a proactive approach in monitoring and preventive awareness even without clear cystic disease. Regular thoracic imaging could be crucial in detecting early cyst formation and could be used to monitor disease evolution; it remains uncertain whether it could prevent life-threatening events. There is a need to revisit current guidelines and consider personalized management strategies.</p><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Funding of the Research</span><p id="par0030" class="elsevierStylePara elsevierViewall">This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Conflicts of Interest</span><p id="par0035" class="elsevierStylePara elsevierViewall">The authors declare not to have any conflicts of interest that may be considered to influence directly or indirectly the content of the manuscript.</p></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0015">Artificial Intelligence Involvement</span><p id="par0040" class="elsevierStylePara elsevierViewall">None of the material was produced with influence from any artificial intelligence software or tool.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:4 [ 0 => array:2 [ "identificador" => "sec0005" "titulo" => "Funding of the Research" ] 1 => array:2 [ "identificador" => "sec0010" "titulo" => "Conflicts of Interest" ] 2 => array:2 [ "identificador" => "sec0015" "titulo" => "Artificial Intelligence Involvement" ] 3 => array:1 [ "titulo" => "References" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "multimedia" => array:1 [ 0 => array:7 [ "identificador" => "fig0005" "etiqueta" => "Fig. 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 692 "Ancho" => 2437 "Tamanyo" => 197120 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">(A) Thoracic computerized tomography scan (coronal view) showing pneumomediastinum and subcutaneous emphysema; (B–D) Thoracic computerized tomography scans showing a cyst in the lower left lobe (yellow arrows), performed eight months before pneumomediastinum (B), during the pneumomediastinum episode (C) and eight months after (D).</p>" ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0015" "bibliografiaReferencia" => array:3 [ 0 => array:3 [ "identificador" => "bib0020" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Pneumomediastinum and striking family history: uncommon case of Birt–Hogg–Dubé syndrome" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:5 [ 0 => "G. Michels" 1 => "E. Erdmann" 2 => "W. Schmidt" 3 => "K.F. Frank" 4 => "R. Pfister" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.2169/internalmedicine.51.7199" "Revista" => array:7 [ "tituloSerie" => "Intern Med" "fecha" => "2012" "volumen" => "51" "numero" => "15" "paginaInicial" => "2007" "paginaFinal" => "2009" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/22864127" "web" => "Medline" ] ] ] ] ] ] ] ] 1 => array:3 [ "identificador" => "bib0025" "etiqueta" => "2" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Birt–Hogg–Dubé syndrome" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:3 [ 0 => "C. Daccord" 1 => "J.-M. Good" 2 => "M.-A. Morren" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1183/16000617.0042-2020" "Revista" => array:3 [ "tituloSerie" => "Eur Respir Rev" "fecha" => "2020" "volumen" => "29" ] ] ] ] ] ] 2 => array:3 [ "identificador" => "bib0030" "etiqueta" => "3" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Birt–Hogg–Dubé syndrome: diagnosis and management" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "F.H. Menko" 1 => "M.A. van Steensel" 2 => "S. Giraud" 3 => "L. Friis-Hansen" 4 => "S. Richard" 5 => "S. Ungari" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Lancet Oncol" "fecha" => "2009" "volumen" => "10" "numero" => "12" "paginaInicial" => "1199" "paginaFinal" => "1206" ] ] ] ] ] ] ] ] ] ] ] "idiomaDefecto" => "en" "url" => "/03002896/unassign/S0300289624003740/v1_202410140402/en/main.assets" "Apartado" => null "PDF" => "https://static.elsevier.es/multimedia/03002896/unassign/S0300289624003740/v1_202410140402/en/main.pdf?idApp=UINPBA00003Z&text.app=https://archbronconeumol.org/" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0300289624003740?idApp=UINPBA00003Z" ]
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