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While CLI admission rates have remained constant from 2003 to 2011, rates of surgical revascularization have significantly declined and endovascular revascularization procedures have increased. This has been associated with decreasing rates of in-hospital death and major amputation rates in the United States. Despite multiple adjustments, endovascular revascularization was associated with reduced in-hospital mortality compared to surgical revascularization during 2003 to 2011.
Congenital sodium diarrhea (CSD) refers to an intractable diarrhea of intrauterine onset with high fecal sodium loss. CSD is clinically and genetically heterogeneous. Syndromic CSD is caused by SPINT2 mutations. While we recently described four cases of the non-syndromic form of CSD that were caused by dominant activating mutations in intestinal receptor guanylate cyclase C (GC-C), the genetic cause for the majority of CSD is still unknown. Therefore, we aimed to determine the genetic cause for non-GC-C non-syndromic CSD in 18 patients from 16 unrelated families applying whole-exome sequencing and/or chromosomal microarray analyses and/or direct Sanger sequencing. SLC9A3 missense, splicing and truncation mutations, including an instance of uniparental disomy, and whole-gene deletion were identified in nine patients from eight families with CSD. Two of these nine patients developed inflammatory bowel disease (IBD) at 4 and 16 years of age. SLC9A3 encodes Na(+)/H(+) antiporter 3 (NHE3), which is the major intestinal brush-border Na(+)/H(+) exchanger. All mutations were in the NHE3 N-terminal transport domain, and all missense mutations were in the putative membrane-spanning domains. Identified SLC9A3 missense mutations were functionally characterized in plasma membrane NHE null fibroblasts. SLC9A3 missense mutations compromised NHE3 activity by reducing basal surface expression and/or loss of basal transport function of NHE3 molecules, whereas acute regulation was normal. This study identifies recessive mutations in NHE3, a downstream target of GC-C, as a cause of CSD and implies primary basal NHE3 malfunction as a predisposition for IBD in a subset of patients.
BackgroundWe aimed to assess trends in hospitalization, outcomes, and resource utilization among patients admitted with adult congenital heart disease (ACHD).Methods and ResultsWe used the 2003–2012 US Nationwide Inpatient Sample for this study. All admissions with an ACHD were identified using standard ICD codes. Resource utilization was assessed using length of stay, invasive procedure utilization, and cost of hospitalization. There was a significant increase in the number of both simple (101%) as well as complex congenital heart disease (53%)–related admissions across 2003–2012. In addition, there was a considerable increase in the prevalence of traditional cardiovascular risk factors including older age, along with a higher prevalence of hypertension, diabetes, smoking, obesity, chronic kidney disease, and peripheral arterial disease. Besides miscellaneous causes, congestive heart failure (11.8%), valve disease (15.5%), and cerebrovascular accident (26.1%) were the top causes of admission to the hospital among patients with complex ACHD, simple ACHD without atrial septal defects/patent foramen ovale and simple atrial septal defects/patent foramen ovale patients, respectively. In‐hospital mortality has been relatively constant among patients with complex ACHD as well as simple ACHD without atrial septal defects/patent foramen ovale. However, there has been considerable increase in the average length of stay and cost of hospitalization among the ACHD patients during 2003–2012.ConclusionsThere has been a progressive increase in ACHD admissions across 2003–2012 in the United States, with increasing healthcare resource utilization among these patients. Moreover, there has been a change in the cardiovascular comorbidities of these patients, adding a layer of complexity in management of ACHD patients.
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