Dominic W H Shayler, Kevin Stachelek, Linda Cambier, Sunhye Lee, Jinlun Bai, Mark W Reid, Daniel J Weisenberger, Bhavana Bhat, Jennifer G Aparicio, Yeha Kim, Mitali Singh, Maxwell Bay, Matthew E Thornton, Eamon K Doyle, Zachary Fouladian, Stephan G Erberich, Brendan H Grubbs, Michael A Bonaguidi, Cheryl Mae Craft, Hardeep P Singh, David Cobrinik
{"title":"Identification and characterization of early human photoreceptor states and cell-state-specific retinoblastoma-related features.","authors":"Dominic W H Shayler, Kevin Stachelek, Linda Cambier, Sunhye Lee, Jinlun Bai, Mark W Reid, Daniel J Weisenberger, Bhavana Bhat, Jennifer G Aparicio, Yeha Kim, Mitali Singh, Maxwell Bay, Matthew E Thornton, Eamon K Doyle, Zachary Fouladian, Stephan G Erberich, Brendan H Grubbs, Michael A Bonaguidi, Cheryl Mae Craft, Hardeep P Singh, David Cobrinik","doi":"10.1101/2023.02.28.530247","DOIUrl":"10.1101/2023.02.28.530247","url":null,"abstract":"<p><p>Human cone photoreceptors differ from rods and serve as the retinoblastoma cell-of-origin, yet the developmental basis for their distinct behaviors is poorly understood. Here, we used deep full-length single-cell RNA-sequencing to distinguish post-mitotic cone and rod developmental states and identify cone-specific features that contribute to retinoblastomagenesis. The analyses revealed early post-mitotic cone- and rod-directed populations characterized by higher THRB or NRL regulon activities, an immature photoreceptor precursor population with concurrent cone and rod gene and regulon expression, and distinct early and late cone and rod maturation states distinguished by maturation-associated declines in RAX regulon activity. Unexpectedly, both L/M cone and rod precursors co-expressed <i>NRL</i> and <i>THRB</i> RNAs, yet they differentially expressed functionally antagonistic <i>NRL</i> and <i>THRB</i> isoforms and prematurely terminated <i>THRB</i> transcripts. Early L/M cone precursors exhibited successive expression of several lncRNAs along with <i>MYCN</i>, which composed the seventh most L/M-cone-specific regulon, and <i>SYK</i>, which contributed to the early cone precursors' proliferative response to <i>RB1</i> loss. These findings reveal previously unrecognized photoreceptor precursor states and a role for early cone-precursor-intrinsic <i>SYK</i> expression in retinoblastoma initiation.</p>","PeriodicalId":14845,"journal":{"name":"Jornal Brasileiro De Pneumologia","volume":"31 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11195049/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89562879","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Ubiratan Paula Santos, Eduardo Algranti, Eduardo Mello De Capitani, Gustavo Faibischew Prado, Ana Paula Scalia Carneiro, Sílvia Carla Sousa Rodrigues, Jefferson Benedito Pires de Freitas, Rodrigo Caruso Chate, Rafael Futoshi Mizutani, Hermano Albuquerque de Castro, Marcos Abdo Arbex, Patrícia Canto Ribeiro, Carlos Nunes Tietboehl Filho, Maria Vera Cruz de Oliveira Castellano, Guilherme Ward Leite, Gustavo Corrêa de Almeida
{"title":"Brazilian Thoracic Society recommendations for the diagnosis and monitoring of asbestos-exposed individuals.","authors":"Ubiratan Paula Santos, Eduardo Algranti, Eduardo Mello De Capitani, Gustavo Faibischew Prado, Ana Paula Scalia Carneiro, Sílvia Carla Sousa Rodrigues, Jefferson Benedito Pires de Freitas, Rodrigo Caruso Chate, Rafael Futoshi Mizutani, Hermano Albuquerque de Castro, Marcos Abdo Arbex, Patrícia Canto Ribeiro, Carlos Nunes Tietboehl Filho, Maria Vera Cruz de Oliveira Castellano, Guilherme Ward Leite, Gustavo Corrêa de Almeida","doi":"10.36416/1806-3756/e20240156","DOIUrl":"10.36416/1806-3756/e20240156","url":null,"abstract":"<p><p>Asbestos was largely used in Brazil. It is a mineral that induces pleural and pulmonary fibrosis, and it is a potent carcinogen. Our objective was to develop recommendations for the performance of adequate imaging tests for screening asbestos-related diseases. We searched peer-reviewed publications, national and international technical documents, and specialists' opinions on the theme. Based on that, the major recommendations are: Individuals exposed to asbestos at the workplace for ≥ 1 year or those with a history of environmental exposure for at least 5 years, all of those with a latency period > 20 years from the date of initial exposure, should initially undego HRCT of the chest for investigation. Individuals with pleural disease and/or asbestosis should be considered for regular lung cancer monitoring. Risk calculators should be adopted for lung cancer screening, with a risk estimate of 1.5%.</p>","PeriodicalId":14845,"journal":{"name":"Jornal Brasileiro De Pneumologia","volume":"50 3","pages":"e20240156"},"PeriodicalIF":2.9,"publicationDate":"2024-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11449612/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142017600","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Fábio Munhoz Svartman, Marina Ilha de Azambuja, Eduarda de Albuquerque Palma, Ana Paula Garcia Sartori, Maurício Mello Roux Leite
{"title":"Lung cancer screening eligibility and recruitment during routine care by pulmonologists: barriers and new opportunities in the Brazilian public healthcare system.","authors":"Fábio Munhoz Svartman, Marina Ilha de Azambuja, Eduarda de Albuquerque Palma, Ana Paula Garcia Sartori, Maurício Mello Roux Leite","doi":"10.36416/1806-3756/e20240071","DOIUrl":"10.36416/1806-3756/e20240071","url":null,"abstract":"","PeriodicalId":14845,"journal":{"name":"Jornal Brasileiro De Pneumologia","volume":"50 3","pages":"e20240071"},"PeriodicalIF":2.9,"publicationDate":"2024-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11449590/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142017601","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Denise Rossato Silva, Rosella Centis, Lia D'Ambrosio, Fernanda Carvalho de Queiroz Mello, Giovana Rodrigues Pereira, Sarita Aguirre, Seif Al-Abri, Khalsa Al-Thohli, Fatma Al Yaquobi, Marianne Calnan, Rosarito Coronel Teixeira, Sandra Inwentarz, Domingo Juan Palmero, Alberto Piubello, Samridhi Sharma, Mahamadou Bassirou Souleymane, Alphazazi Soumana, Sai Meng Tham, Pei Min Thong, Zarir F Udwadia, Martin van den Boom, Giovanni Sotgiu, Giovanni Battista Migliori
{"title":"Impact of COVID-19 on diagnosis of tuberculosis and tuberculosis infection in South America, Asia, and Africa.","authors":"Denise Rossato Silva, Rosella Centis, Lia D'Ambrosio, Fernanda Carvalho de Queiroz Mello, Giovana Rodrigues Pereira, Sarita Aguirre, Seif Al-Abri, Khalsa Al-Thohli, Fatma Al Yaquobi, Marianne Calnan, Rosarito Coronel Teixeira, Sandra Inwentarz, Domingo Juan Palmero, Alberto Piubello, Samridhi Sharma, Mahamadou Bassirou Souleymane, Alphazazi Soumana, Sai Meng Tham, Pei Min Thong, Zarir F Udwadia, Martin van den Boom, Giovanni Sotgiu, Giovanni Battista Migliori","doi":"10.36416/1806-3756/e20240077","DOIUrl":"10.36416/1806-3756/e20240077","url":null,"abstract":"","PeriodicalId":14845,"journal":{"name":"Jornal Brasileiro De Pneumologia","volume":"50 3","pages":"e20240077"},"PeriodicalIF":2.9,"publicationDate":"2024-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11449606/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141563395","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Cyro Antonio Fonseca, Gláucia Zanetti, Edson Marchiori
{"title":"Fat embolism: a rare cause of pulmonary infarction.","authors":"Cyro Antonio Fonseca, Gláucia Zanetti, Edson Marchiori","doi":"10.36416/1806-3756/e20240113","DOIUrl":"10.36416/1806-3756/e20240113","url":null,"abstract":"","PeriodicalId":14845,"journal":{"name":"Jornal Brasileiro De Pneumologia","volume":"50 3","pages":"e20240113"},"PeriodicalIF":2.9,"publicationDate":"2024-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11449615/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141563394","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
José Alberto Neder, Denis E O'Donnell, Danilo C Berton
{"title":"The role of the pulmonary function laboratory to assist in disease management: connective tissue diseases.","authors":"José Alberto Neder, Denis E O'Donnell, Danilo C Berton","doi":"10.36416/1806-3756/e20240093","DOIUrl":"10.36416/1806-3756/e20240093","url":null,"abstract":"","PeriodicalId":14845,"journal":{"name":"Jornal Brasileiro De Pneumologia","volume":"50 3","pages":"e20240093"},"PeriodicalIF":2.9,"publicationDate":"2024-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11449597/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141563398","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Camila Alcantara Quidigno, Daniela de Lima Guerra, Paulo Henrique Ramos Feitosa
{"title":"Pulmonary embolization with cyanoacrylate after obliteration of gastric varicose veins.","authors":"Camila Alcantara Quidigno, Daniela de Lima Guerra, Paulo Henrique Ramos Feitosa","doi":"10.36416/1806-3756/e20240036","DOIUrl":"10.36416/1806-3756/e20240036","url":null,"abstract":"","PeriodicalId":14845,"journal":{"name":"Jornal Brasileiro De Pneumologia","volume":"50 3","pages":"e20240036"},"PeriodicalIF":2.9,"publicationDate":"2024-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11449625/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141563396","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Philippe de Figueiredo Braga Colares, Alfredo Nicodemos Cruz Santana, Rodrigo Abensur Athanazio, Ronaldo Adib Kairalla, Bruno Guedes Baldi
{"title":"Respiratory amyloidosis: a case series from a Brazilian referral center.","authors":"Philippe de Figueiredo Braga Colares, Alfredo Nicodemos Cruz Santana, Rodrigo Abensur Athanazio, Ronaldo Adib Kairalla, Bruno Guedes Baldi","doi":"10.36416/1806-3756/e20240047","DOIUrl":"10.36416/1806-3756/e20240047","url":null,"abstract":"","PeriodicalId":14845,"journal":{"name":"Jornal Brasileiro De Pneumologia","volume":"50 3","pages":"e20240047"},"PeriodicalIF":2.9,"publicationDate":"2024-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11449593/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141426925","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Frederico Friedrich, Lucas Montiel Petry, Laura de Castro E Garcia, Marina Puerari Pieta, Amanda da Silva Meneses, Luana Braga Bittencourt, Luiza Fernandes Xavier, Marcos Otávio Brum Antunes, Lucas Kich Grun, Magali Lumertz, Karl Kunzelmann, Leonardo Araujo Pinto
{"title":"Benzbromarone as adjuvant therapy for cystic fibrosis lung disease: a pilot clinical trial.","authors":"Frederico Friedrich, Lucas Montiel Petry, Laura de Castro E Garcia, Marina Puerari Pieta, Amanda da Silva Meneses, Luana Braga Bittencourt, Luiza Fernandes Xavier, Marcos Otávio Brum Antunes, Lucas Kich Grun, Magali Lumertz, Karl Kunzelmann, Leonardo Araujo Pinto","doi":"10.36416/1806-3756/e20230292","DOIUrl":"10.36416/1806-3756/e20230292","url":null,"abstract":"<p><strong>Objective: </strong>Cystic fibrosis (CF) affects multiple organs, the most severe consequences being observed in the lungs. Despite significant progress in developing CF transmembrane conductance regulator-specific treatments for CF lung disease, exploring alternative CF-targeted medications seems reasonable. We sought to evaluate the potential beneficial effects of oral benzbromarone as an adjuvant therapy in CF patients with reduced lung function.</p><p><strong>Methods: </strong>This was a prospective open-label pilot study of oral benzbromarone (100 mg/day) administered once daily for 90 days. Patients were followed at a tertiary referral center in southern Brazil. Safety was assessed by the number of reported adverse events. Secondary objectives included percent predicted FEV1 (FEV1%) and pulmonary exacerbations.</p><p><strong>Results: </strong>Ten patients were enrolled. Benzbromarone was found to be safe, with no serious drug-related adverse events. Eight patients completed the study; the median relative change in FEV1% tended to increase during the treatment, showing an 8% increase from baseline at the final visit. However, a nonparametric test showed that the change was not significant (p = 0.06). Of a total of ten patients, only one experienced at least one pulmonary exacerbation during the study.</p><p><strong>Conclusions: </strong>Oral benzbromarone appears to be safe, and improved FEV1% has been observed in patients with CF. Further assessment in larger trials is warranted to elucidate whether oral benzbromarone can be a potential adjuvant therapy for CF.</p>","PeriodicalId":14845,"journal":{"name":"Jornal Brasileiro De Pneumologia","volume":"50 3","pages":"e20230292"},"PeriodicalIF":2.9,"publicationDate":"2024-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11449610/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141426852","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}