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PurposeThere is a known association between Cornelia de Lange syndrome (CdLS) and congenital diaphragmatic hernia (CDH), with CDH being the cause of death in 5%–20% of CdLS cases. We aimed to identify and describe patients with CDLS and CDH. We hypothesized that CdLS would be associated with high-risk CDH and poor outcomes.MethodsCDH Study Group patients from 1995 to 2019 were included. Those with CdLS were reviewed retrospectively. Rates of repair and outcomes were compared between patients with and without CdLS.ResultsWe identified 9,251 CDH patients. Of those, 21 had confirmed CdLS. CdLS patients had a lower birth weight (2.2 ± 0.57 kg) than non-CdLS patients (2.9 ± 0.64 kg) (p < 0.001). 5-min Apgar scores were lower in CdLS patients (6, 4–7) than non-CdLS patients (7, 5–8) (p = 0.014). Only 33% of CdLS patients underwent diaphragmatic repair compared to 84.2% of non-CdLS patients (p < 0.001). Mortality was 76% for CdLS patients compared with 29% for non-CdLS patients (p < 0.001). Of the 7 CdLS patients who underwent repair, 5 survived to hospital discharge.ConclusionsInfants with CdLS and CDH have a poor prognosis. However, CdLS patients who undergo repair can survive to discharge; therefore, the concomitant diagnosis of CdLS and CDH is not necessarily a contraindication to repair. Early recognition of these anomalies can assist with counseling and prognostication.Type of studyRetrospective comparative studyLevel of evidenceIII  相似文献   
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Annals of Surgical Oncology - Management of axillary lymph nodes in breast cancer has undergone significant change over the past decade through landmark clinical trials. This study aimed to assess...  相似文献   
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For women with breast cancer in whom multiple Oncotype DX® Recurrence Scores (RS) are obtained, RS concordance utilizing current NCCN recommendations has not been evaluated. Patients with two or more RS were identified. RS were stratified by NCCN guidelines and compared for concordance. Twenty-four patients were evaluated. RS concordance varied by tumor type: 100% in the same tumor, 91.7% in multiple ipsilateral tumors, 71.4% in contralateral tumors, and 66.7% in in-breast recurrent tumors. RS concordance for multiple assays in the same patient is not high enough to omit Oncotype DX® testing for each tumor.  相似文献   
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Radiation-induced breast angiosarcoma, or secondary angiosarcoma (SAS), is a rare entity with a high risk of metastatic recurrence. Herein, we describe the use of intraoperative fluorescence-based skin angiography to guide surgical resection following a novel immunotherapy-based regimen for SAS resulting in a complete pathological response.  相似文献   
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BackgroundNoninvasive monitoring of partial pressure of carbon dioxide can be accomplished indirectly with capnography (PETCO2) or with transcutaneous carbon dioxide monitoring (PTCCO2). The use of capnography has been shown to offer an advantage over pulse oximetry alone in the early detection of adverse respiratory events when supplemental oxygen is administered. Furthermore, capnography allows for the monitoring of various respiratory measures, including end-tidal carbon dioxide, respiratory rate, tidal volume, and changes in breathing patterns. Transcutaneous CO2 also closely approximates arterial CO2 values, but is not as easy to monitor for prolonged periods. The purpose of this study was to examine the usefulness of capnography and of transcutaneous carbon dioxide monitoring in patients recovering from obesity surgery at high risk of developing postoperative obstructive sleep apnea.MethodsIn a prospective observational study, 64 bariatric surgery patients at risk of developing obstructive sleep apnea were monitored in the postanesthesia care unit (PACU) with either capnography alone (31 patients) or capnography plus transcutaneous carbon dioxide monitoring (33 additional patients) every 3–5 minutes for the duration of their recovery. Primary endpoints included end-tidal and transcutaneous carbon dioxide, peripheral oxygen saturation, respiratory rate, pain scores, and incidence of adverse respiratory events.ResultsAlthough no adverse pulmonary events were observed, capnography detected several patients who experienced short periods of respiratory apnea while maintaining pulse oximetry readings within normal limits. Transcutaneous values were slow to change and averaged 4.5 ± 5.5 mm Hg (P < .05) higher than corresponding end-tidal measurements.ConclusionsThese results indicate the capabilities of both these noninvasive techniques for postoperative monitoring. Capnography acutely monitors changes in respiration, whereas transcutaneous monitoring more accurately reflects arterial CO2 levels.  相似文献   
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