In infracardiac, infradiaphragmatic total anomalous pulmonary venous connection, all four pulmonary veins connect to a descending vertical vein that usually drains to the portal vein or one of its tributaries. Obstruction is common, and definitive treatment is surgical repair. We present a case of late-diagnosed infradiaphragmatic total anomalous pulmonary venous connection in a premature neonate who was too high risk for surgery and underwent palliative stenting of the venous duct. We demonstrate the feasibility of a transhepatic approach when umbilical access is no longer available.
In select patients, transcatheter pulmonary valve replacement through a percutaneous approach can be challenging because of complicated anatomy or small patient size. In these patients, especially those weighing <20 kg, hybrid perventricular valve delivery may provide a preferred alternative approach. ( Level of Difficulty: Intermediate. )
1372 Background: Very little is known about the cell of origin or the pathogenesis of LCH. There remains debate regarding LCH as a malignant disorder or the result of immune dysregulation. While multiple studies in the past failed to identify significant genetic lesions, an activating mutation (V600E) in the serine/threonine kinase BRAF was recently described in LCH biopsy samples (Badalian-Very et al., 2010). Objective: This study was designed to evaluate the frequency of BRAF mutations in LCH lesions, to identify the cells within the lesions carrying the mutation, and to evaluate the clinical and biological significance of the mutation. Design/Methods: Fresh LCH biopsy samples were collected, cells were sorted into CD3+ and CD207+ fractions, and RNA was purified then amplified into cDNA. Sanger sequencing as well as BRAF allele-specific PCR were performed for each sample. Categorical clinical data was compared to BRAF genotype to evaluate clinical significance of the mutation. Transcriptomes of CD207+ cells were also compared (wild-type BRAF vs V600E) with the Affymetrix U133Plus2.0 platform to determine the impact of the BRAF mutation on global gene expression. Results: The BRAF V600E mutation was consistently identified in cDNA generated from CD207+ cells in 17 of 32 (52%) LCH biopsy samples. Only the wild-type allele was detected in purified T (CD3+) cells from LCH lesions, control epidermal (CD207+) Langerhans cells, and control tonsil T (CD3+) cells. In two cases of recurrent disease, BRAF status was consistent in the presenting and the relapse CD207+ cells: wild-type BRAF in one case and V600E BRAF in another. However, mutation status did not correlate significantly with age (p=0.6), single lesion vs multifocal/systemic (p=1.0), or future recurrent/refractory disease (p=0.2) in this series. Furthermore, unsupervised clustering gene expression profiles CD207+ cells (wild-type BRAF vs V600E) did not segregate datasets based on BRAF status. Using standard statistical analysis, there were no genes identified as significantly up- or down-regulated as a result of the V600E mutation. Conclusion: The BRAF V600E point mutation is the first reproducible molecular abnormality identified in LCH. In this study, we validate the observation that it occurs with high frequency, and definitively localize the pathologic CD207+ cell as the source of the mutation in LCH lesions. Interestingly, while the frequency of the mutation implies some functional significance, in this series there is no statistically significant clinical difference between patients with wild-type or mutated BRAF lesions, and the transcriptomes of LCH CD207+ cells with wild-type and V600E BRAF are indistinguishable. It is possible that the mutation affects LCH pathogenesis at earlier stages in tumorigenesis, or there may be other routes of Ras pathway activation in LCH lesions with wild-type BRAF. While the role for BRAF in LCH pathogenesis remains to be defined, this is an important molecular foothold from which to investigate the biology of LCH. Disclosures: No relevant conflicts of interest to declare.
Background: We investigated if initiating preventive care against HIV vertical transmission by antenatal HIV screening is independent of the patients’ source of financial reimbursement for the care received in sub-Saharan Africa. Methods: Using information from the WHO’s Global Health Expenditure Database and the Demographic Health Surveys Database for 27 sub-Saharan countries, we used Spearman’s correlation and adjusted survey logistic regression to determine the potential relationship between enrollment in health insurance and the likelihood that expectant mothers would be offered antenatal HIV screening. Results: We found that expectant mothers covered by health insurance were more than twice as likely to be offered antenatal screening for HIV compared to the uninsured. The likelihood differed by the type of insurance plan the expectant mother carried. Discussion: Health insurance is more of a financial tool that this study finds to be necessary to boost the uptake of preventive and therapeutic HIV care in SSA. Conclusion: The ensuing disparity in receiving proper care could hinder achieving the goals of the 90-90-90 and the forthcoming 95-95-95 plan in SSA.
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