{"title":"Clinical and genetic profiles of paediatric patients with cystic fibrosis from Western India.","authors":"Parmarth Chandane, Avantika Chauhan, Alpa Bhosale, Mounnish Balaji, Nidhi Parekh","doi":"10.4103/lungindia.lungindia_404_24","DOIUrl":"10.4103/lungindia.lungindia_404_24","url":null,"abstract":"<p><strong>Background: </strong>Cystic fibrosis (CF) is a genetic disorder caused by genetic variant in the cystic fibrosis transmembrane regulator (CFTR) gene that affects around 89,000 people worldwide. Loss of the CFTR chloride channel due to pathogenic variants in the CFTR gene causes obstruction in the exocrine pancreas gland and reduced lung function.</p><p><strong>Objective: </strong>To determine the genotype and phenotype of patients with CF from western India.</p><p><strong>Materials and methods: </strong>This was a single-center retrospective cross-sectional study conducted in a tertiary care super speciality paediatric hospital of Mumbai, India, comprising patients aged 0 to 18 years visiting a paediatric pulmonology clinic with suspected or confirmed diagnosis of CF.</p><p><strong>Results: </strong>The mean (SD) age of onset of symptoms was 6.8 (10.2) months and the mean (SD) age at diagnosis was 32.5 (50.5) months. The two most common genetic variants found in our patients were c. 1521_1523delCTT (F508del) (n = 21) and c.1367T>C (V456A) (n = 10). There were nine novel genetic variants identified that have not been reported so far. The mean (SD) age of onset of symptoms was 6.8 (10.2) months and mean (SD) age at diagnosis was 32.5 (50.5) months. The most common presenting features were recurrent respiratory infections (83%), malabsorption (79%), and failure to thrive (79%). Sweat chloride testing was conducted to establish the CFTR gene dysfunction and was positive in 79% (46/58) of patients and intermediate in 15% (n = 9/58) of patients. The two most common genetic variants found in our group of patients were c. 1521_1523delCTT (F508del) (n = 21) and c.1367T>C (V456A) (n = 10). There were nine novel genetic variants identified that have not been reported so far.</p><p><strong>Conclusion: </strong>This study adds to the knowledge of genetic diversity in the pathogenic CFTR gene variants causing CF and highlights the importance of sequencing the entire CFTR gene as regional variations in the gene have been documented in India.</p>","PeriodicalId":47462,"journal":{"name":"Lung India","volume":"42 2","pages":"103-108"},"PeriodicalIF":1.3,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11952732/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143517024","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Lung IndiaPub Date : 2025-01-01Epub Date: 2024-12-24DOI: 10.4103/lungindia.lungindia_114_24
T H Deepak, Karan Deshmukh, S Santha Kumar, J Venugopal
{"title":"Endobronchial stenting in a rare case of severe necrotic tracheal mucormycosis.","authors":"T H Deepak, Karan Deshmukh, S Santha Kumar, J Venugopal","doi":"10.4103/lungindia.lungindia_114_24","DOIUrl":"10.4103/lungindia.lungindia_114_24","url":null,"abstract":"<p><p>We present a case of tracheal necrosis due to mucormycosis in a young diabetic male. He presented with stridor due to airway obstruction from the necrosed tracheal wall. We used a silicon tracheal stent to maintain airway patency and support the airway. This case highlights the use of tracheal stenting to stabilize the airway in an extremely necrosed and friable trachea, which is not fit for surgical resection due to the involvement of the long segment of the trachea. To the best of our knowledge, the use of stents to stabilize necrosed tracheal walls in cases of mucormycosis has not been reported so far.</p>","PeriodicalId":47462,"journal":{"name":"Lung India","volume":"42 1","pages":"47-48"},"PeriodicalIF":1.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11789961/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142886370","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Lung IndiaPub Date : 2025-01-01Epub Date: 2024-12-24DOI: 10.4103/lungindia.lungindia_337_24
Lorenzo Carriera, Roberto Barone, Simone Ielo, Angelo Coppola
{"title":"Simultaneous treatment with benralizumab and ustekinumab in a patient with severe asthma and ulcerative colitis.","authors":"Lorenzo Carriera, Roberto Barone, Simone Ielo, Angelo Coppola","doi":"10.4103/lungindia.lungindia_337_24","DOIUrl":"10.4103/lungindia.lungindia_337_24","url":null,"abstract":"<p><p>The burden of autoimmune diseases is rising worldwide. The expansion of the population of patients eligible for severe asthma biological therapy we are seeing in clinical practice could lead to the simultaneous use of different monoclonal antibodies. We present the case of biological combination therapy with ustekinumab and benralizumab in a patient with ulcerative colitis and severe eosinophilic asthma. The patient, already undergoing biological treatment for colitis, began to suffer from uncontrolled severe asthma. Since benralizumab was administered, the patient has not experienced any exacerbations requiring oral corticosteroids, emergency department visits, or hospital admissions, and the control of asthma symptoms and respiratory function considerably improved. Twelve months after the initiation of the combination, both diseases are well controlled, without any side effects or blood test abnormalities. To our knowledge, this is one of the first reported cases of patients simultaneously receiving a combination of biological therapy for ulcerative colitis and asthma.</p>","PeriodicalId":47462,"journal":{"name":"Lung India","volume":"42 1","pages":"49-52"},"PeriodicalIF":1.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11789949/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142886389","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Lung IndiaPub Date : 2025-01-01Epub Date: 2024-12-24DOI: 10.4103/lungindia.lungindia_477_24
Sunil K Chhabra
{"title":"Understanding the use of z-scores and LLN in pulmonary function test reports.","authors":"Sunil K Chhabra","doi":"10.4103/lungindia.lungindia_477_24","DOIUrl":"10.4103/lungindia.lungindia_477_24","url":null,"abstract":"","PeriodicalId":47462,"journal":{"name":"Lung India","volume":"42 1","pages":"1-3"},"PeriodicalIF":1.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11789950/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142886398","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Lung IndiaPub Date : 2025-01-01Epub Date: 2024-12-24DOI: 10.4103/lungindia.lungindia_445_24
Dipasri Bhattacharya, Antonio M Esquinas, Mohanchandra Mandal
{"title":"Wean early leave early-The underpinning facts!","authors":"Dipasri Bhattacharya, Antonio M Esquinas, Mohanchandra Mandal","doi":"10.4103/lungindia.lungindia_445_24","DOIUrl":"10.4103/lungindia.lungindia_445_24","url":null,"abstract":"","PeriodicalId":47462,"journal":{"name":"Lung India","volume":"42 1","pages":"77-78"},"PeriodicalIF":1.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11789946/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142886401","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Lung IndiaPub Date : 2025-01-01Epub Date: 2024-12-24DOI: 10.4103/lungindia.lungindia_354_24
Neeraj Sharma, Robin Choudhary, Kirti Mohanan, Kunal Kumar
{"title":"Tuberculous parotitis: A rare presentation of a common disease.","authors":"Neeraj Sharma, Robin Choudhary, Kirti Mohanan, Kunal Kumar","doi":"10.4103/lungindia.lungindia_354_24","DOIUrl":"10.4103/lungindia.lungindia_354_24","url":null,"abstract":"","PeriodicalId":47462,"journal":{"name":"Lung India","volume":"42 1","pages":"75-76"},"PeriodicalIF":1.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11789962/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142886396","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Lung IndiaPub Date : 2025-01-01Epub Date: 2024-12-24DOI: 10.4103/lungindia.lungindia_189_24
Pavithra Murugesan, Deepthi Sharma, B R Ramesh, Geetha V Bhat
{"title":"Pulmonary talaromycosis in a non-HIV individual-A rare case report from Southern India.","authors":"Pavithra Murugesan, Deepthi Sharma, B R Ramesh, Geetha V Bhat","doi":"10.4103/lungindia.lungindia_189_24","DOIUrl":"10.4103/lungindia.lungindia_189_24","url":null,"abstract":"","PeriodicalId":47462,"journal":{"name":"Lung India","volume":"42 1","pages":"55-56"},"PeriodicalIF":1.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11789954/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142886383","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Lung IndiaPub Date : 2025-01-01Epub Date: 2024-12-24DOI: 10.4103/lungindia.lungindia_239_24
Iqbal Muhammad, Ngakan P P Putra, Ungky A Setyawan, Nanik Setijowati
{"title":"Diagnostic value of monocyte chemoattractant protein-1 (MCP-1) and lactate dehydrogenase (LDH) in malignant pleural effusion: A cross-sectional study.","authors":"Iqbal Muhammad, Ngakan P P Putra, Ungky A Setyawan, Nanik Setijowati","doi":"10.4103/lungindia.lungindia_239_24","DOIUrl":"10.4103/lungindia.lungindia_239_24","url":null,"abstract":"","PeriodicalId":47462,"journal":{"name":"Lung India","volume":"42 1","pages":"66-67"},"PeriodicalIF":1.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11789956/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142886368","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Lung IndiaPub Date : 2025-01-01Epub Date: 2024-12-24DOI: 10.4103/lungindia.lungindia_351_24
Anil K Singh, Huda Shamim, Swish K Singh, Rajat K Mishra, S Dipin
{"title":"Necrotizing pneumonia causing left descending pulmonary artery pseudoaneurysm: A rare entity.","authors":"Anil K Singh, Huda Shamim, Swish K Singh, Rajat K Mishra, S Dipin","doi":"10.4103/lungindia.lungindia_351_24","DOIUrl":"10.4103/lungindia.lungindia_351_24","url":null,"abstract":"","PeriodicalId":47462,"journal":{"name":"Lung India","volume":"42 1","pages":"57-58"},"PeriodicalIF":1.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11789957/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142886377","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}