The ATP-binding cassette subfamily A member 3 (ABCA3) protein plays a fundamental role in surfactant homeostasis. Most children with ABCA3 gene mutations develop pulmonary interstitial fibrosis leading to the development of interstitial lung disease. Since traditional medicine does not offer effective therapy, the best option is lung transplantations, especially bilateral lung transplantations. We are reporting the case of a successful bilateral lung transplantation in a five-year-old child with pulmonary interstitial fibrosis caused by ABCA3 gene mutations. This successful transplantation enabled the patient to get rid of chronic cough and tachypnea.
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http://dx.doi.org/10.1016/j.trim.2024.102056 | DOI Listing |
Gen Thorac Cardiovasc Surg Cases
December 2024
Department of Thoracic Surgery, Kyoto University Graduate School of Medicine, Kyoto, 606-8507, Japan.
Background: Lung transplantation is a viable lifesaving option for patients with diffuse pulmonary arteriovenous malformations (AVMs). We present a case of diffuse pulmonary AVMs associated with juvenile polyposis and hereditary hemorrhagic telangiectasia (JP-HHT) that was successfully managed by lung transplantation.
Case Presentation: A 19-year-old woman developed severe hypoxemia due to pulmonary AVMs diagnosed at 4 years of age.
World J Clin Cases
December 2024
Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand.
This editorial explores the clinical implications of organizing pneumonia (OP) secondary to pulmonary tuberculosis, as presented in a recent case report. OP is a rare condition characterized by inflammation in the alveoli, which spreads to alveolar ducts and terminal bronchioles, usually after lung injuries caused by infections or other factors. OP is classified into cryptogenic (idiopathic) and secondary forms, the latter arising after infections, connective tissue diseases, tumors, or treatments like drugs and radiotherapy.
View Article and Find Full Text PDFEur J Cancer
December 2024
Department of Oncology, Azienda Sanitaria Universitaria Friuli Centrale (ASUFC), Udine, Italy. Electronic address:
Background: Anaplastic Lymphoma Kinase (ALK) rearrangement is a rare alteration in differentiated thyroid carcinomas (DTCs). Due to its low prevalence, a few evidence are available about the use of ALK inhibitors in advanced DTCs.
Methods: We report the case of a striatin (STRN) - ALK translocated advanced thyroid carcinoma.
J Int Med Res
December 2024
Department of Urology, Shaoxing People's Hospital, Shaoxing, Zhejiang, China.
renal transplant carcinoma, especially in the context of bilateral renal carcinoma, is rare and often presents as small, low-grade papillary renal cell carcinoma (RCC). There is currently no consensus or effective treatment for advanced metastatic RCC after kidney transplantation. A 40-year-old man developed renal transplant carcinoma with venous thrombus and lung metastases 13 years after transplantation.
View Article and Find Full Text PDFPediatr Surg Int
December 2024
Department of Pediatric Surgery, Karamanoğlu Mehmetbey University, Karaman, Türkiye.
Background: We aimed to evaluate the epidemiological characteristics, risk factors and prognostic factors affecting the clinical follow-up of patients who underwent tube thoracostomy due to pneumothorax in the neonatal intensive care unit of our hospital.
Methods: In our study; 54 cases with neonatal pneumothorax underwent tube thoracostomy followed up in the neonatal intensive care unit between April 2014 and March 2023 were retrospectively analyzed.
Results: The gestational age of the cases was between 28 and 38 weeks; 24 (44.
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