Aortic dissection in a Chinese patient 31 years after surgical repair of tetralogy of Fallot.

Aortic dilation has been increasingly recognized in congenital heart diseases, and aortic dissection is one of the important complications. We report a case of aortic dissection in a patient 31 years after repair of tetralogy of Fallot (TOF) and review reported cases. While aortic dissection is uncommon, aortic dilation is common among patients with repaired TOF and it appeared progressive in some patients. Based on the reported cases, progressive aortic dilation appeared as the pre-requisite for aortic dissection, although other factors might be involved. Regular surveillance and monitoring for aortic complications should be incorporated into clinical practice. .

Intracardiac foreign body: A rare cause of recurrent fungemia.

BACKGROUND: An intracardiac foreign body causing recurrent fungemia is a rare clinical situation. Clinicians should be that aware of rare sources of sepsis despite a thorough history and examination. RESULTS: The authors describe a 63 year-old man, with unremarkable past medical history, who presented with a fever for 2 weeks. Blood cultures persistently grew Candida albicans and Streptococcus constellatus. Echocardiogram assessment showed a suspected vegetation over the tricuspid valve. Surgical exploration with median sternotomy and cardiopulmonary bypass revealed a tooth-pick impacted within the right atrium surrounded by vegetation. The authors postulate accidental ingestion of the foreign body and translocation into the right atrium via the esophagus and thoracic cavity. CONCLUSION: Surgical removal of symptomatic intracardiac foreign bodies is highly recommended.

[Short-term exercise-based cardiac rehabilitation induced changes in cardiorespiratory, mechanical and neuromuscular responses to progressive exercise testing]. / Dissociation des réponses cardiorespiratoires et neuromusculaires à l'exercice à la suite de 4 semaines de réentraînement à l'effort chez des patients cardiaques.

Previous studies showed that changes in peak of oxygen uptake value (VO2peak) with training were poorly related to changes in Maximal Tolerated Power output (MTP) among patients with cardiovascular disease. This result could be due to a difference between cardiopulmonary adaptation to training and the skeletal muscle conditioning. OBJECTIVE: The aim of the study was to compare the responses to exercise training of electromyographic activities of vastus lateralis (rms-EMG) and respiratory parameters. METHODS: Nine cardiac patients (64.0±3.1y, 172.9±4.8cm, 83.4±16.3kg, BMI: 27.8±4.5) performed an incremental cycling exercise test to determine MTP, VO2peak and peak values of heart rate, before and after an aerobic training. Ventilatory thresholds were respectively determined as the breakpoint in the curve of carbon dioxide output against oxygen uptake plot (VT1) and the point at which the ratio of minute ventilation to carbon dioxide output starts to increase (VT2). EMGth1 and EMGth2 were defined as the first and the second breakpoints in the rms-EMG - power output relationship. RESULTS: Short-term exercise training (23.7±8.8 days) induced a significant increase in VO2peak (P=0.004), MTP (P=0.015), VT1 (P=0.001) and VT2 (P=0.001). Changes in VO2peak only attained the survival criteria (3.5±2.9mLmin-1kg-1). No significant differences (P>0.05) existed between mean power values of VT1 and EMGth1 (60.5±4.1 vs. 59.2±9.6% of MTP, respectively), or between VT2 and EMGth2 (78.3±5.7 vs. 80.2±5.2% of MTP). After training, EMGth1 occurred significantly before VT1 (60.5±6.2 vs. 64.8±4.8% of MTP, P=0.049). CONCLUSION: This might be taken into account for prescribing exercise rehabilitation according initial clinical limitations of patients.

[Is there a disassociation of ventilatory and electromyographic thresholds in patients with heart disease during a graded cycling exercise?] / Concordance et dissociation des seuils de fatigue électromyographiques et des seuils ventilatoires chez le patient en réadaptation cardiaque.

Exercise prescription was generally based on the determination of ventilatory thresholds (VT1, VT2) during cardiopulmonary exercise testing (CPX). Changes in surface electromyographic activity (EMGth1, EMGth2) were also related to VT1 and VT2 in healthy subjects. OBJECTIVE: To observe the occurrence of EMGth1 and EMGth2 and whether these events accompany VT1 and VT2 during CPX in cardiac patients (CP). METHOD: Thirty-four CP (62.1±7.3years, 172.1±6.3cm, 81.3±15.3kg, BMI: 27.3±4.1) performed a cycle CPX at a 60-rpm cadence. VT1 was determined as the breakpoint in the curve of carbon dioxide output against oxygen uptake plot (V-slope method). VT2 was defined as the point at which the ratio of minute ventilation to carbon dioxide output starts to increase. The root mean square of electromyogram (rms-EMG) was on-line calculated from the real time bipolar surface electromyographic signals recorded from the vastus lateralis. EMGth1 and EMGth2 were defined as the first and the second breakpoints in the rms-EMG-power output relationship. RESULTS: Peak values of oxygen uptake (16.3±4.6mL·min-1·kg-1) and heart rate (106.7±13.8bpm) were reached at 112.9±38.5w (PMT). VT1 and VT2 occurred at 71.1±25.9w (62.5±5.5% PMT) and 87.9±28.6w (78.0±5.1% PMT). All subjects presented two breakpoints in the rms-EMG curve, EMGth1 at 68.0±24.7w and EMGth2 at 88.5±30.1w, i.e. 60.0±7.6 and 78.6±5.0% of PMT. EMGth1 occurred significantly before VT1 (P=0.004, small effect size). No significant difference was observed between EMGth2 and VT2 (P=0.13, small effect size). CONCLUSION: The EMGth1 occurrence before VT1 suggested a role of skeletal muscle conditioning on ventilatory responses, which should be taken into account in cardiac rehabilitation program prescription.

Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease.

We sought to identify the molecular basis of the autosomal dominant form of Kufs disease, an adult onset form of neuronal ceroid lipofuscinosis. We used a combination of classic linkage analysis and Next Generation Sequencing to map and identify mutations in DNAJC5 in a total of three families. We analyzed the clinical manifestations in 20 individuals with mutation in DNAJC5. We report here the mapping and the identification of a p.L116del mutation in DNAJC5 segregating with the disease in two distinct American families, as well as a p.L115R mutation in an additional family. The age of onset and clinical manifestations were very homogeneous among mutation positive individuals, including generalized tonic-clonic seizures, myoclonus, ataxia, speech deterioration, dementia, and premature death. A few individuals also exhibited parkinsonism. DNAJC5, which encodes the cysteine string protein (CSPα), a presynaptic protein implicated in neurodegeneration, causes autosomal dominant Kufs disease. The leucine residues at positions 115 and 116 are hotspots for mutations and result in a homogeneous phenotype of progressive myoclonus epilepsy with onset around 30 years old.

Synthesis and thermostructural studies of a CuFe(1-x)Cr(x)O(2) delafossite solid solution with 0

In this work, different CuFe(1-x)Cr(x)O(2) compositions with 0