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Sherezade Khambatta, Douglas L Nguyen, Thomas J Beckman, Christopher M Wittich Division of General Internal Medicine, Mayo Clinic, Rochester, MN, USA Background: Kearns–Sayre syndrome (KSS) is a rare mitochondrial cytopathy, first described at Mayo Clinic in 1958. Aims: We aimed to define patient and disease characteristics in a large group of adult and pediatric patients with KSS. Methods: We retrospectively searched the Mayo Clinic medical index patient database for the records of patients with KSS between 1976 and 2009. The 35 patients identified with KSS were analyzed in terms of demographic characteristics, presenting signs and symptoms, diagnostic features, clinical evolution, and associations between disease features and the development of disability. Results: The mean (standard [SD]) age at KSS presentation was 17 (10) years, but the mean age at diagnosis was 26 (15) years. Ophthalmologic symptoms developed in all patients, and neurologic and cardiac involvement was common. Only four patients (11%) in the series died, but all deaths were from sudden cardiac events. The development of physical disability was significantly associated with cognitive decline (P=0.004) but not with other clinical features, such as sex or sudden cardiac death. Conclusion: We report the largest case series to date of patients with KSS from a single institution. In addition to the conduction system abnormalities identified in previous series, our cohort included patients with syncope and sudden cardiac death. This underscores the need to consider formal electrophysiologic studies and prophylactic defibrillators in patients with KSS. Keywords: heart block, mitochondrial diseases, ophthalmoplegia, retinitis pigmentosa

Introduction: Proximal radio-ulnar translocation (PRUT) with elbow dislocation, without a fracture, is an extremely unusual injury., Case: A 6-year-old female child presented to us with posterior elbow dislocation, PRUT and incomplete ulnar nerve palsy. A hematoma aspiration and reduction of the elbow joint were done with a hyper-supination manoeuvre to reverse the translocation. She was managed with an above-elbow cast for 4 weeks and showed good radiological and functional outcomes on subsequent follow-ups until 1 year., Conclusion: Early recognition of PRUT and a thorough clinico-radiological assessment are mandatory when dealing with paediatric elbow injuries. Our cadaveric study with illustrations defines the mechanism of this rare injury for better understanding., Competing Interests: The authors do not have any conflict of interests., (© 2024 The Author(s).)

Background: The association of bleeding avoidance strategy (BAS) (consisting of a combination of radial access, bivalirudin [rather than heparin +/- glycoprotein GPIIb/IIIa antagonists], and/or vascular closure devices after femoral access) with bleeding and in-hospital outcomes has not been evaluated among elderly patients undergoing percutaneous coronary interventions (PCI)., Methods: We studied BAS use, bleeding and in-hospital mortality among 121,635 patients categorized by age (<50, 50-59, 60-69, 70-79, and ≥80years) undergoing PCI from the BMC2 registry (1/2010-12/2013)., Results: The use of BAS decreased marginally with age and despite improved utilization over time, remained lower among the elderly. BAS was used in a much lower risk cohort among all age groups. Nonetheless, compared with no BAS, the use of this strategy was associated with lower bleeding (adjusted OR 0.984, 95% CI 0.980-0.985) and in-hospital mortality (adjusted OR 0.996, 95% CI 0.994-0.997) among all age-groups. Similar relative reduction in the risk of bleeding was observed among all age groups with BAS use with lowest risk (thus greatest absolute risk reduction given their highest risk for bleeding) for the oldest cohort., Conclusions: BAS use decreased with age among patients undergoing PCI despite its association with lower in-hospital mortality. Although overall utilization improved over time, it still remained lower in the elderly cohort, a group likely to benefit most from it. These data identified an opportunity to design strategies to improve BAS use particularly among high-risk elderly patients undergoing PCI so as to decrease bleeding and reduce related adverse events and costs., (Copyright © 2016 Elsevier Inc. All rights reserved.)

Study Design: A retrospective radiological study of the ligamentum flavum (LF)., Purpose: This study is an attempt to measure and compare the thickening of the LF on both the sides with the use of magnetic resonance imaging, to investigate if there is a predominant tendency to thicken a specific side and also to determine if a correlation between the thickening of the LF and increasing age exists., Overview of Literature: Even though many studies measured the thickness of the LF, very few have compared it on each side, or determined its correlation with age., Methods: The thickness of LF was measured at the L3-4, L4-5, L5-S1 levels on both sides using the magnetic resonance images of 200 patients (n=1,200). The sample population was divided into three groups: 21-40 years, 41-60 years, and 61-80 years. The data was analyzed statistically, comparing the thickness of LF on both sides and in various age-groups., Results: The thickness of the LF was found to increase with age; however, there were several younger instances with thicknesses >4 mm. The mean thickness of the right LF at different spinal levels was measured (L3-L4=3.38±0.94 mm, L4-L5=3.70±1.16 mm, and L5-S1=3.65±1.16 mm) while the mean thickness of the left LF was higher (L3-L4=3.52±0.99 mm, L4-L5=3.84±1.12 mm, and L5-S1=3.78±1.24 mm)., Conclusions: The LF thickness does not appear to have any side dominance; however, it tends to thicken with increasing age.

Background: Bleeding after percutaneous coronary intervention (PCI) is more common in women than in men. However, the relationship of sex and bleeding with outcomes is less well studied., Methods: We examined the sex-related differences in the incidence of bleeding and its association with in-hospital outcomes among 96,637 patients undergoing PCI enrolled in the BMC2 registry (2010-2012)., Results: Women had higher bleeding rate than did men (3.9% vs 1.8%) and thus received more blood transfusions (59% vs 41%). Both men (odds ratio [OR] 2.25, 95% CI 1.70-2.97) and women (OR 3.13, 95% CI 2.42-4.07) who bled had higher risk-adjusted death compared with their counterparts without bleeding. Although there was no difference in adjusted mortality between women and men without bleeding (OR 1.14, 95% CI 0.99-1.32), among patients who bled, adjusted death was higher in women (OR 1.28, 95% CI 1.11-1.47). Among patients with bleeding, transfusion was associated with similar increased risk of death in both men (OR 2.00, 95% CI 1.23-3.25) and women (OR 2.18, 95% CI 1.31-3.63) compared with their counterparts without transfusion(s)., Conclusions: Post-PCI bleeding was more common and associated with higher-than-expected in-hospital death in women compared with men with bleeding. This trend for higher death in women with bleeding was independent of transfusion. Quality efforts geared toward reducing bleeding in general, with a special focus on women, need to be explored to help reduce post PCI-bleeding and mortality and decrease sex-related disparity in adverse events., (Copyright © 2014 Mosby, Inc. All rights reserved.)

Background: The aim of this study was to examine if racial disparities exist in the treatment and outcomes of patients undergoing contemporary percutaneous coronary intervention (PCI)., Methods: We examined the association between race, process of care, and outcomes of patients undergoing PCI between January 1, 2010, and December 31, 2011, and enrolled in the Blue Cross Blue Shield of Michigan Cardiovascular Consortium. We used propensity matching to compare the outcome of black and white patients., Results: The study cohort comprised 65,175 patients, of whom 6,873 (10.5%) were black and 55,789 (85.6%) were white. Black patients were more likely to be younger, be female, have more comorbidities, and be uninsured. Overall, black patients were less likely to receive prasugrel (10.0% vs 14.5%, P < .001) and drug-eluting stents (62.5% vs 67.7%, P < .001), largely related to lower use of these therapies in hospitals treating a higher proportion of black patients. No differences were seen between white and black patients with regard to inhospital mortality (odds ratio 1.34, 95% CI 0.82-2.2, P = .24), contrast-induced nephropathy (OR 1.06, 95% CI 0.81-1.40, P = .67), and need for transfusion (OR 1.27, 95% CI 0.98-1.64, P = .06). White race was associated with increased odds of heart failure (OR 1.48, 95% CI 1.05-2.08, P = .024) and vascular complications (OR 1.40, 95% CI 1.03-1.90, P = .032)., Conclusions: Compared with white patients, black patients undergoing PCI have a greater burden of comorbidities but, after adjusting for these differences, have similar inhospital survival and lower odds of vascular complications and heart failure after PCI., (Copyright © 2013 Mosby, Inc. All rights reserved.)

Background: Spontaneous coronary artery dissection (SCAD) is an acute coronary event of uncertain origin. Clinical features and prognosis remain insufficiently characterized., Methods and Results: A retrospective single-center cohort study identified 87 patients with angiographically confirmed SCAD. Incidence, clinical characteristics, treatment modalities, in-hospital outcomes, and long-term risk of SCAD recurrence or major adverse cardiac events were evaluated. Mean age was 42.6 years; 82% were female. Extreme exertion at SCAD onset was more frequent in men (7 of 16 versus 2 of 71; P<0.001), and postpartum status was observed in 13 of 71 women (18%). Presentation was ST-elevation myocardial infarction in 49%. Multivessel SCAD was found in 23%. Initial conservative management (31 of 87) and coronary artery bypass grafting (7 of 87) were associated with an uncomplicated in-hospital course, whereas percutaneous coronary intervention was complicated by technical failure in 15 of 43 patients (35%) and 1 death. During a median follow-up of 47 months (interquartile range, 18-106 months), SCAD recurred in 15 patients, all female. Estimated 10-year rate of major adverse cardiac events (death, heart failure, myocardial infarction, and SCAD recurrence) was 47%. Fibromuscular dysplasia of the iliac artery was identified incidentally in 8 of 16 femoral angiograms (50%) undertaken before closure device placement and in the carotid arteries of 2 others with carotid dissection., Conclusions: SCAD affects a young, predominantly female population, frequently presenting as ST-elevation myocardial infarction. Although in-hospital mortality is low regardless of initial treatment, percutaneous coronary intervention is associated with high rates of complication. Risks of SCAD recurrence and major adverse cardiac events in the long term emphasize the need for close follow-up. Fibromuscular dysplasia is a novel association and potentially causative factor.

We sought to determine whether persons with intermediate risk factors for cardiovascular disease presenting to an emergency department with chest pain and chronic kidney disease (CKD) were triaged effectively by chest pain units (CPUs). CPUs evaluate patients with intermediate risk and acute chest pain effectively. CKD is a risk factor for poor outcomes once cardiovascular disease has developed. However, current algorithms to risk stratify patients with acute chest pain do not include renal function. A total of 408 patients enrolled previously in the CHEER study of intermediate risk patients with chest pain, assigned randomly to hospitalization or observation in a CPU where an estimated glomerular filtration rate (GFR) was available, were included. No difference was found in short-term outcomes of patients including in-hospital death, myocardial infarction, or coronary revascularization based on renal function. For the 205 patients randomized to the CPU, the rate of admission to the hospital was significantly higher in the group with CKD compared with the group with normal renal function (68.2 vs 48.2%, P=0.007). In a multivariate analysis, decreased renal function was not associated with adverse short-term outcomes. On 5 years follow-up, the overall long-term mortality was significantly higher in the group with CKD (14.1% vs 5.5%, P=0.003). We concluded that CKD is a strong predictor of hospitalization and overall long-term mortality in patients presenting with chest pain to the emergency department. Current risk factor stratification scoring systems should consider CKD as a predictor of increased risk in patients with chest pain., (Copyright © 2012. Published by Mosby, Inc.)

Objective: To identify and describe the frequency, histologic features, and clinical outcome of colon polyposis and neoplasia in Cowden syndrome--a rare familial hamartoma tumor syndrome associated with mutations in the PTEN gene., Patients and Methods: Patients with a clinical diagnosis of PTEN hamartoma tumor syndrome-Cowden phenotype were retrospectively identified and studied. Only those who underwent colonoscopy or colon pathologic interpretation were included in the final analysis., Results: From 1994 to 2009, 13 patients met study inclusion criteria. Of the 10 patients who underwent colonoscopy, 9 (90%; 95% confidence interval [CI], 57%-100%) had polyps, and 7 (70%; 95% CI, 39%-90%) were estimated to have more than 50 polyps. Pathologic findings of the colon were reviewed in 11 patients, and the spectrum of tumors included hamartomatous, inflammatory, adenomatous, ganglioneuromatous, hyperplastic, and juvenile polyps. Of the 13 patients, 2 (15%; 95% CI, 3%-43%) had left-sided adenocarcinoma without microsatellite instability. Five (38%) of the 13 patients underwent colectomy secondary to polyp dysplasia., Conclusion: Patients with Cowden syndrome have a heavy colon polyp burden with a wide pathologic spectrum, both benign and malignant. The colon polyposis results in a previously unreported morbidity with a high colectomy rate.

Background: Elevations in cardiac troponin have prognostic importance in critically ill patients. However, there are no data addressing the independent association between troponin levels and mortality, adjusted for the severity of the underlying disease, in patients hospitalized for acute respiratory disorders. We investigated whether troponin T (cTnT) elevations are independently associated with in-hospital mortality in patients in the intensive care unit (ICU) admitted for severe and acute respiratory conditions. After adjusting for the severity of disease measured by the Acute Physiology, Age, and Chronic Health Evaluation (APACHE) III prognostic system, we evaluated short-term (30 days) and long-term (3 years) mortality., Methods: We studied the APACHE III database and cTnT levels from patients admitted consecutively to the ICU at Mayo Clinic, Rochester, Minnesota. Between January 2001 and December 2005, 2078 patients with respiratory conditions had cTnT measured at ICU admission. In-hospital, short-term (30 days) and long-term (3 years) all-cause mortality were determined., Results: Of the study patients, 878 (42.3%) had elevated cTnT and 1200 patients (57.7%) had undetectable cTnT. During hospitalization, 1.1% of the patients with troponin T <0.01 ng/mL died compared to 21% of those with troponin T ≥0.01 ng/mL (P <.0001). At 30 days, mortality was 18.6% in patients with elevations of cTnT and 1.5% in patients without elevations of cTnT (P <.0001). The Kaplan-Meier probability of survival at 1-year follow-up was 71.0%, at 2-year follow-up was 48.3%, and 3-year follow-up was 39.4% with troponin T ≥0.01 ng/mL and at 1-year follow-up was 98.8%, at 2-year follow-up was 97.2%, and at 3-year follow-up was 95.5% with troponin T <0.01 μg/L (P <.0001). After adjustment for severity of disease and baseline characteristics, cTnT levels remained associated with in-hospital, short-term and long-term mortality (P <.0001)., Conclusions: In patients admitted to the ICU for respiratory disorders, cTnT elevations are independently associated with in-hospital, short-term and long-term mortality., (Copyright © 2010 Elsevier Inc. All rights reserved.)