Articles: ninos.
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Case Reports
De Novo mutation of FOXF1 causes alveolar capillary dysplasia with misalignment of pulmonary veins: A case report.
Alveolar capillary dysplasia with misalignment of the pulmonary veins (ACD/MPV) is a rare congenital malformation in neonates that results in severe respiratory distress and pulmonary hypertension. ACD/MPV is caused by mutations in the FOXF1 gene. Herein, a new case of a girl with ACD/MPV carrying a novel pathogenic variant of FOXF1 was reported. ⋯ ACD/MPV is a rare congenital malformation with a poor prognosis. A new de novo mutation of FOXF1 was found in our case. Non-invasive methods such as DNA sequencing and FOXF1 analysis are helpful in the clinical diagnosis of ACD/MPV especially in early infants with respiratory distress and pulmonary hypertension.
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Observational Study
Mortality-related factors in patients with OXA-48 carbapenemase-producing Klebsiella pneumoniae bacteremia.
Carbapenemase-producing Enterobacterales constitute a serious public health threat; however, information on the oxacilinasa (OXA-48)-type is limited. The objective of the study was to evaluate the risk factors associated with 14-day mortality for patients with bacteremia due to OXA-48 carbapenemase-producing Klebsiella pneumoniae. We conducted a retrospective, single-center observational study of adult patients with K. pneumoniae bacteremia, classifying the strains as carbapenem-susceptible K. pneumoniae (CSKp) and carbapenem-resistant K. pneumoniae (CRKp). ⋯ Other factors related to 14-day mortality were a rapidly fatal prognosis (McCabe) (HR 7.1, 95% CI 2.75-18.37, P < .001), dementia (HR 5.9, 95% CI 2.0-7.43, P = .001), and a high-risk source of infection (HR 2.7, 95% CI 1.06-6.82, P = .038). The most important factors associated with 14-day mortality for the patients with K. pneumoniae bacteremia was an INCREMENT-CPE score ≥7, dementia, a McCabe score indicating a rapidly fatal prognosis and a high-risk source of infection. We found no relationship between a poorer outcome and CRKp isolation or inadequate antibiotic therapy.
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The free fibular flap is considered the gold standard, particularly for a mandibular defect combined with a significant soft tissue defect. However, the fibular flap has the disadvantages of a lack of height for postoperative dental restoration and donor site skin graft if the skin paddle is wider than 5 cm. The larger bone and soft tissue defects tend to be reconstructed using either a scapula or a combination of iliac artery and radial free flap. Few cases involving reconstruction using chimeric deep circumflex iliac artery perforator flap (DCIAPF) for mandibular defect combined with more significant soft tissue defects have been reported due to perforator variations. We successfully performed oromandibular reconstruction using chimeric DCIAPF. ⋯ Chimeric DCIAPF is an excellent option for mandibular angle or body segment defects combined with significant soft tissue defects.
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Observational Study
Factors associated with post-electroconvulsive therapy delirium: A retrospective chart review study.
Although electroconvulsive therapy (ECT) is generally a safe therapeutic method, unexpected adverse effects, such as post-ECT delirium, may occur. Despite its harmful consequences, there has been little discussion about the predictors of post-ECT delirium. Thus, the current study aimed to clarify the factors associated with post-ECT delirium by reviewing electronic medical records of 268 bitemporal ECT sessions from December 2006 to July 2018 in a university hospital. ⋯ The regression model also indicated that etomidate use to be significantly associated with post-ECT delirium. In this study, etomidate was associated with a higher risk of developing post-ECT delirium, an association that appeared unrelated to other possible measured variables. Practitioners should take into account the risk of post-ECT delirium while choosing anesthetics, so as to prevent early discontinuation before sufficient therapeutic gain is achieved.
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Observational Study
Genomic analysis of pancreatic cancer reveals 3 molecular subtypes with different clinical outcomes.
Pancreatic cancer has a very high mortality with a 5-year survival of <5%. The purpose of this study was to classify specific molecular subtypes associated with prognosis of pancreatic cancer using The Cancer Genome Atlas (TCGA) multiplatform genomic data. Multiplatform genomic data (N = 178), including gene expression, copy number alteration, and somatic mutation data, were obtained from cancer browser (https://genome-cancer.ucsc.edu, cohort: TCGA Pancreatic Cancer). ⋯ Cox regression analysis revealed that molecular subtype is the only significant prognostic factor for pancreatic cancer (P = .042, 95% confidence interval 0.523-0.98). Genomic analysis of pancreatic cancer revealed 3 distinct molecular subtypes associated with different survival results. Using these subtype-specific genes and prediction model, we could predict molecular subtype associated with prognosis of pancreatic cancer.