Moya moya syndrome in a child with pyruvate kinase deficiency and combined prothrombotic factors

A 13-year-old Greek girl with pyruvate kinase deficiency and moya moya angiographic pattern is reported. She also had raised serum lipoprotein (a) concentration and was homozygous for the C677T mutation of the methylenetetrahydrofolate reductase gene. She presented with neonatal onset of anemia, hemolytic and aplastic crises, especially during infections, stroke, and also progressive motor and mental deterioration. A digital cranial angiography at 13 years revealed the typical angiographic findings of moya moya angiopathy. This is likely the first patient with pyruvate kinase deficiency and moya moya syndrome and also the combination of elevated serum lipoprotein (a) concentration and the C677T mutation of the methylenetetrahydrofolate reductase gene to be reported. In patients with pyruvate kinase deficiency and moya moya syndrome, a search for raised serum lipoprotein (a) concentrations and the C677T mutation of the methylenetetrahydrofolate reductase gene should be considered.     

Chronic hepatitis C in Latinos: natural history, treatment eligibility, acceptance, and outcomes

OBJECTIVES: The natural history of chronic hepatitis C and treatment response are different between blacks and Caucasians, but little comparable data is available about Latinos. METHODS: A cross-sectional secondary analysis to investigate differences between 421 anti-HCV-positive, treatment-na?ve, HCV-viremic Latinos and 2,510 Caucasians in 24 VA medical centers enrolled in a prospective study. RESULTS: Latinos were infected at a younger age and were less likely to have blood contact during combat, surgery, and needle stick injury, but were more frequently HIV coinfected (20.4%vs 3.9%, p < 0.0001) and prior HAV infection (39.9%vs 26.4%, p= 0.0001). Latinos were more likely to be treatment candidates, but less likely to actually initiate treatment. Liver histology (123 Latinos, 743 Caucasians) showed no difference in fibrosis or fibrosis rate, but steatosis (54.7%vs 43.2%, p= 0.038) was more common in Latinos. Eighty-eight Latinos and 481 Caucasians were subsequently treated with interferon-ribavirin: body mass index (BMI), duration of infection, baseline tests, liver histology and genotype distribution were similar. Compared with Caucasians, Latinos discontinued treatment prematurely more often (39.8%vs 28.9%, p= 0.043) and tended to have lower sustained virological response (SVR) rates (14.8%vs 22.5%, p= 0.10). Multivariate analysis found Latino race and history of recent alcohol use to be associated with early treatment discontinuation, whereas genotype and viral load but not ethnicity to be associated with SVR. CONCLUSIONS: Latinos were infected younger, more frequently HIV coinfected, more likely to meet criteria for antiviral therapy yet less likely to initiate treatment and had a trend toward lower SVR rates than Caucasians, but not in severity of liver disease. Latino ethnicity was associated with early discontinuation but not as an independent predictor of SVR.     

Pre-Dilatation Versus No Pre-Dilatation for Implantation of a Self-Expanding Valve in All Comers Undergoing TAVR: The DIRECT Trial

Objectives

The aim of this study was to compare the implantation of a self-expanding valve with or without balloon aortic valvuloplasty (BAV) in an open-label, noninferiority, randomized trial.

Transferring AAC intervention to the home

Purpose: To evaluate the acquisition of AAC skills during an initial clinical trial and assess subsequent transfer of the training to the home setting. Method: A 12-year-old male with autism was first seen in a clinical setting to establish the use of a voice-output communication device. After learning to use the device to request access to preferred objects in the clinical trial, the intervention was transferred to the home. Follow-up with the parent was conducted via e-mail and telephone. Videotapes were made of initial home-based sessions to enable evaluation of the participant's progress. Results: The programme was successful in teaching the participant to use a portable AAC device to make requests during the clinical trial and then in two home-based activities. Conclusion: An initial clinical trial with follow-up support for parents may be an efficient method for beginning AAC intervention and transferring the training procedures to the home setting.     

Long term effects of cardiac resynchronization therapy in non-ambulatory NYHA IV heart failure patients

Background: We aimed at evaluating the long‐term effects of cardiac resynchronization therapy (CRT) in nonambulatory New York Heart Association (NYHA) IV heart failure patients (NAIVHFP). Methods: Eighteen patients, 15 men and three women, eight with ischemic and 10 with nonischemic cardiomyopathy, who underwent biventricular pacemaker implantation while they were in nonambulatory NYHA IV class, were studied. Patients’ age was 58 ± 9 years and left ventricular ejection fraction (LVEF) 18 ± 3 %. Follow‐up data were obtained through review of follow‐up visits notes, stored echocardiographic studies, device interrogation data, and death certificates. Results: After a mean duration of 1223 ± 846 days, 11 patients were alive, including five patients who underwent heart transplantation (OCT) and seven dead. Three of 11 patients who received a CRT‐defibrillator, experienced at least one appropriate discharge, but eventually they either died or received an OCT during follow‐up. Sustained improvements in NYHA class (Z = 2.4, P = 0.015) and 6‐minute walk distance (0 vs 212 ± 95 m, P ? 0.001) were documented after a median duration of 855 days postimplantation. Cumulative proportion of death or OCT at 18 months—when full follow‐up data were available—was 18%, which compared favorably with historical controls. Full echocardiographic and clinical follow‐up data at 12‐months postimplantation were available for 10 patients, documenting a significant reduction in end‐systolic volume (248 ± 82 vs 269 ± 97 mL, P = 0.039). Conclusions: CRT can be safely applied in this subset of extreme severity heart failure patients, achieving encouraging survival rates and reverse remodeling effects. These observations can form an evidence‐based rationale for including NAIVHFP in randomized CRT trials. (PACE 2011; 34:1553–1560)     

Procalcitonin in acute myocardial infarction

OBJECTIVE: Procalcitonin (PCT) is released in severe bacterial infections, sepsis and in infection independent cases such as major surgery, multiple trauma, cardiogenic shock, burns, resuscitation, and after cardiac surgery. The aim of this study was to determine the levels and the kinetics of PCT in AMI and to investigate their possible correlation with the release of IL-6 and CRP. DESIGN-PATIENTS: The study included 60 patients (47 men, 63.2+/-14.8 years) with the diagnosis of AMI at admission. In all patients, serum levels of PCT, IL-6, CK-MB, TnI and CRP were measured at admission, at 3, 6, 12, 24, 48 and 72 h and at the seventh day. RESULTS: PCT was elevated in all patients with AMI. It was initially detected in serum approximately 2-3 h after the onset of the symptoms. The median value at admission was 1.3 ng/ml (95% CI: 0.89 to 1.80). The value of PCT showed an increase and reached a plateau after 12-24 h. The median value at 24 h was 3.57 ng/ml (95% CI: 2.89 to 4.55). PCT values fell to baseline (<0.5 ng/ml) by the seventh day. PCT was detected in serum earlier than CK-MB or TnI in 56 of the 60 patients (93.3%). The kinetics of PCT was similar to those of CK-MB and TnI. The maximal values of PCT were positively correlated with the maximal values of IL-6 (r = 0.59, P = 0.00) and of CRP (r = 0.65, P = 0.001). The maximal values of IL-6 were positively correlated with max CRP (r = 0.35, P = 0.045). CONCLUSIONS: PCT could be considered as a novel sensitive myocardial index. Its release in AMI is probably due to the inflammatory process that occurs during AMI.     

Model to predict mortality in critically ill adults with acute kidney injury

Summary

Background and objectives

Acute kidney injury (AKI) requiring dialysis is associated with high mortality. Most prognostic tools used to describe case complexity and to project patient outcome lack predictive accuracy when applied in patients with AKI. In this study, we developed an AKI-specific predictive model for 60-day mortality and compared the model to the performance of two generic (Sequential Organ Failure Assessment [SOFA] and Acute Physiology and Chronic Health Evaluation II [APACHE II]) scores, and a disease specific (Cleveland Clinic [CCF]) score.

Design, setting, participants, & measurements

Data from 1122 subjects enrolled in the Veterans Affairs/National Institutes of Health Acute Renal Failure Trial Network study; a multicenter randomized trial of intensive versus less intensive renal support in critically ill patients with AKI conducted between November 2003 and July 2007 at 27 VA- and university-affiliated centers.

Results

The 60-day mortality was 53%. Twenty-one independent predictors of 60-day mortality were identified. The logistic regression model exhibited good discrimination, with an area under the receiver operating characteristic (ROC) curve of 0.85 (0.83 to 0.88), and a derived integer risk score yielded a value of 0.80 (0.77 to 0.83). Existing scoring systems, including APACHE II, SOFA, and CCF, when applied to our cohort, showed relatively poor discrimination, reflected by areas under the ROC curve of 0.68 (0.64 to 0.71), 0.69 (0.66 to 0.73), and 0.65 (0.62 to 0.69), respectively.

Conclusions

Our new risk model outperformed existing generic and disease-specific scoring systems in predicting 60-day mortality in critically ill patients with AKI. The current model requires external validation before it can be applied to other patient populations.