Stephansenbalslev4730

BACKGROUND The United States Preventative Task Force (USPSTF) Guidelines are the most widely used criteria for screening for abdominal aortic aneurysms (AAA). However, when the USPSTF criteria are applied retrospectively to a group of patients who have undergone treatment for AAA there are many patients who satisfy none of the AAA screening criteria. The more sensitive Society for Vascular Surgery (SVS) guidelines have expanded the criteria for screening for AAA with the hope of capturing a larger fraction of those individuals who can undergo treatment for their AAA prior to presenting with AAA rupture. We sought to identify the number of patients who would have been identified as having criteria for screening for AAA by both the USPSTF and SVS criteria, in a cohort of patients who have undergone treatment of an AAA. METHODS We assessed demographic, comorbid and perioperative complication data for all patients undergoing endovascular and open AAA repair in the Vascular Quality Initiative (VQI). Patients meetieening criteria, ruptured AAA was twice as prevalent as those who met screening criteria (8.5% vs 4.4%, p= less then 0.0001). CONCLUSIONS Expanding established USPSTF screening guidelines to include the expanded SVS criteria may potentially double the number of patients identified with AAA. Smokers under the age of 65, and elderly patients 70 and older with no smoking history, represent two groups with AAA and potentially twice the risk of presenting with rupture. OBJECTIVE Peripheral artery disease (PAD) has been shown to affect health status and quality of life, however, the disability associated by specific anatomic level of disease is unknown. We evaluated patients presenting with claudication by anatomic level and utilized the Peripheral Artery Questionnaire (PAQ), a PAD-specific validated tool, to quantify patients' symptoms, function, treatment satisfaction, and quality of life. METHODS The PORTRAIT (Patient-centered Outcomes Related to Treatment Practices in peripheral Arterial disease Investigating Trajectories) registry is a multicenter, international, prospective study of patients with PAD. Anatomic level of PAD was stratified as follows Aortoiliac only, Femoral-Popliteal only, Infrapopliteal only, and Multilevel disease. Health status information was collected at baseline, 3, 6, and 12 months using the PAQ. Student's t-test, Chi-square test, and linear mixed-effects models were examined. RESULTS Anatomic data were present in 623 (48.9%) of 1,275 patients 12. INTRODUCTION The effectiveness of rotational atherectomy in the treatment of complex superficial femoral artery(SFA) lesions remains poorly defined. Outcomes of SFA lesions treated with rotational atherectomy were analyzed. METHODS This retrospective review assessed all patients who underwent rotational atherectomy of the SFA at a single institution between 2015-2018. All patient data was de-identified and the study was approved by the institutional IRB. Informed consent was not obtained for this retrospective analysis. Selleck ND-630 Main outcomes were Kaplan-Meier primary patency rate, freedom from major amputation, and two-year survival rate. The effect of drug-coated balloon angioplasty (DCBA) on patency and time-to-death was investigated using univariate regression. The safety profile for atherectomy and DCBA was assessed via the 30-day incidence of major amputation and all-cause mortality. RESULTS Fifty-three patients (mean age, 70.2±9.8 years; 73% male; 65% critical limb ischemia[CLI]; 47[90%] current or former smokend towards improved primary patency after adjunctive DCBA compared to plain balloon angioplasty(POBA) at one year (75% vs 43%; p=0.1082). There was no significant difference in mortality between adjunctive DCBA and POBA at two years (11% vs 0%). The two-year incidence of major amputation in CLI patients was 3.9% (1.2-6.5). One patient died and none underwent amputation within 30 days. CONCLUSIONS Rotational atherectomy with adjunctive DCBA of long SFA lesions has excellent long-term patency. Two-year major amputation and mortality rates are low and the technique has an exceptional safety profile. Tooth agenesis (TA) is the developmental absence of one or more permanent teeth. We report on 10 members of a Pakistani family afflicted with TA with variable associated features inherited in autosomal dominant fashion with full penetrance. The malformation is bilateral in the majority of cases, and hallmark feature is the absence of lateral and central incisors and canines whereas first and second premolars are involved less often. Affected individuals also have pronounced variable features associated with TA such as diastema between central incisors, overgrown labial frenum, peg-shaped lower incisors, delayed exfoliation, over-erupted upper incisors and malocclusion but have no other signs of ectodermal dysplasia. Through linkage analysis coupled with exome sequencing, we identified novel nonsense variant EDAR c.1302G > A, p.(Trp434*). The variant is deduced to create a premature termination codon that leads to the deletion of the 15 C-terminal residues. Heterozygous EDAR variants most commonly cause hypohydrotic ectodermal dysplasia, but recently one nonsense and 10 missense variants have been reported in nonsyndromic TA, some with few mild features of hypohydrotic ectodermal dysplasia. The phenotype in the family we present, the largest with EDAR-related TA reported to date, is highly variable and without any signs of ectodermal dysplasia. Congenital hyperinsulinism is a rare but significant cause of severe and persistent hypoglycaemia in infancy. Although a biphasic phenotype of congenital hyperinsulinism in infancy followed by Maturity-Onset Diabetes of the Young (MODY) in later life has been established for HNF4A, the existence of a similar phenotype for a related MODY gene, HNF1A, is less clear. We describe two cases of congenital hyperinsulinism in association with dominantly inherited variants in HNF1A. They presented in the early neonatal period with unequivocal biochemical evidence of congenital hyperinsulinism and persistence into childhood with ongoing need for medical therapy. Both cases inherited HNF1A variants from a parent with a diabetes phenotype consistent with MODY, without obesity, insulin resistance or other metabolic syndrome features. In the first case, a paternally inherited novel c.-230_-101del variant was found that deletes the minimal promoter region presumably required for HNF1A expression. In the second case, a maternally inherited missense variant (c.