Journal of medical case reports
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Case Reports
Hydroxychloroquine, a successful treatment for lung disease in ABCA3 deficiency gene mutation: a case report.
Pulmonary surfactant is a complex mixture of lipids and specific proteins that stabilizes the alveoli at the end of expiration. Mutations in the gene coding for the triphosphate binding cassette transporter A3 (ABCA3), which facilitates the transfer of lipids to lamellar bodies, constitute the most frequent genetic cause of severe neonatal respiratory distress syndrome and chronic interstitial lung disease in children. Hydroxychloroquine can be used as an effective treatment for this rare severe condition. ⋯ Outcome in patients with ABCA3 mutations is variable ranging from severe irreversible respiratory failure in early infancy to chronic interstitial lung disease in childhood (ChILD) usually with the need for lung transplantation in many patients surviving this rare disorder. Hydroxychloroquine through its anti-inflammatory effects or alteration of intra-cellular metabolism may have an effect in treating cases of ABCA3 gene mutations.
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Review Case Reports
A false alarm of COVID-19 pneumonia in lung cancer with anti-PD-1 related pneumonitis: a case report and review of the literature.
Pneumonitis belongs to the fatal toxicities of anti-PD-1/PD-L1 treatments. Its diagnosis is based on immunotherapeutic histories, clinical symptoms, and the computed tomography (CT) imaging. The radiological features were typically ground-glass opacities, similar to CT presentation of 2019 Novel Coronavirus (COVID-19) pneumonia. Thus, clinicians are cautious in differential diagnosis especially in COVID-19 epidemic areas. ⋯ The anti-PD-1 related pneumonitis and COVID-19 pneumonia possess similar clinical presentations and CT imaging features. Therefore, differential diagnosis depends on the epidemiological and immunotherapy histories, RT-PCR tests. The response to glucocorticoid is still controversial but helpful for the diagnosis.
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Metformin-associated lactic acidosis (MALA) is a widely documented adverse event of metformin. Despite being considered one of the main causes of metabolic acidosis, the association between an anion gap and MALA diagnosis is still uncertain. ⋯ In patients with MALA, there is a significant variability in the anion gap values, which is not related to the level of metformin accumulation, and therefore, it is doubtful whether measuring anion gaps is useful as an approach for MALA diagnosis.
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Review Case Reports
Effective treatment of osmotic demyelination syndrome with plasmapheresis: a case report and review of the literature.
Treatment options for chronic osmotic demyelination syndrome are limited to case reports and only a very few show complete recovery. We report a case of complete recovery of chronic osmotic demyelination syndrome with plasmapheresis. ⋯ Plasmapheresis can be considered as an effective treatment modality in chronic osmotic demyelination syndrome.
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Case Reports
Refractory secondary pneumothorax complicated with lung cancer treated by bronchial occlusion: a case report.
Pneumothorax is defined as the presence of air or gas in the pleural cavity. Secondary pneumothorax usually occurs in patients with overt underlying lung disease, most commonly chronic obstructive pulmonary disease (COPD). Patients with poor lung function often suffer from pneumothorax with a persistent air leak. Various strategies have been employed in the treatment of such refractory pneumothorax. Bronchial occlusion with an Endobronchial Watanabe Spigot (EWS) (Novatech, Grasse, France) has been shown to be useful in treating prolonged bronchopleural fistulas. Although the effects of bronchial occlusion with EWS are known, refractory pneumothorax often involves multiple affected bronchi, and in some cases the affected bronchi cannot be easily identified. In addition, secondary pneumothorax associated with advanced lung cancer often prolongs the treatment of pneumothorax, which can significantly reduce patients' quality of life and prognosis. ⋯ Refractory secondary pneumothorax, which affected multiple bronchi and developed into collateral ventilation due to lung cancer, was treated successfully with bronchial occlusion and EWS. In cases where the affected bronchi cannot be determined by the balloon occlusion test, bronchography with iopamidol might be an effective treatment.