Providing regular grandchild care: Grandparents' psychological and physical health.

OBJECTIVES: To examine the associations between intensity of providing regular grandchild care and positive affect (PA) and negative affect (NA), heart rate variability (HRV) and somatic symptoms. METHODS: This was a cross-sectional study involving 104 individuals (aged 59-82) who provide at least 5 h a week of regular care for their grandchildren. The study model was assessed using structural equation modeling. RESULTS: Intensity of regular care (mean hours per week: M = 14.8, SD = 11.2) was associated with higher PA and lower NA. Higher perceived role overload, higher NA and lower PA were associated with lower HRV and somatic symptoms. The fit indices indicated a good model fit. CONCLUSIONS: The results suggest that healthcare professionals should be aware of the positive and negative implications of caring for grandchildren on their older patients, including the increased risk of future morbidity, as indicated by lower HRV.

The long-term effects of early-life trauma on psychological, physical and physiological health among the elderly: the study of Holocaust survivors.

Objectives: To study post-traumatic stress symptoms and post-traumatic growth and heart rate variability among elderly Holocaust survivors and a matched comparison group and the mediational effect of post-traumatic stress symptoms and post-traumatic growth on the association between Holocaust experience and heart rate variability. Method: 159 Holocaust survivors and 87 matched participants without Holocaust experience answered post-traumatic stress symptoms and post-traumatic growth questionnaires. Heart rate variability time and frequency parameters were measured for a subsample of N = 133. Results: Holocaust survivors reported higher levels of post-traumatic stress symptoms and post-traumatic growth. Most heart rate variability measures were similar in the two groups, except for better heart rate variability measured by the ratio of low frequency/high frequency among Holocaust survivors. Structural equation modeling showed that belonging to the Holocaust survivor group was associated with higher post-traumatic stress symptoms and higher post-traumatic growth, as well as better heart rate variability scores (standard deviation of normal to normal R-R intervals, high frequency and the ratio of low frequency/high frequency) through the mediation of post-traumatic stress symptoms and post-traumatic growth. Conclusions: The study emphasized the duality of the association between post-traumatic stress symptoms and post-traumatic growth and their integrated effect on heart rate variability.

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy.

Respiratory chain deficiencies exhibit a wide variety of clinical phenotypes resulting from defective mitochondrial energy production through oxidative phosphorylation. These defects can be caused by either mutations in the mtDNA or mutations in nuclear genes coding for mitochondrial proteins. The underlying pathomechanisms can affect numerous pathways involved in mitochondrial physiology. By whole-exome and candidate gene sequencing, we identified 11 individuals from 9 families carrying compound heterozygous or homozygous mutations in GTPBP3, encoding the mitochondrial GTP-binding protein 3. Affected individuals from eight out of nine families presented with combined respiratory chain complex deficiencies in skeletal muscle. Mutations in GTPBP3 are associated with a severe mitochondrial translation defect, consistent with the predicted function of the protein in catalyzing the formation of 5-taurinomethyluridine (τm(5)U) in the anticodon wobble position of five mitochondrial tRNAs. All case subjects presented with lactic acidosis and nine developed hypertrophic cardiomyopathy. In contrast to individuals with mutations in MTO1, the protein product of which is predicted to participate in the generation of the same modification, most individuals with GTPBP3 mutations developed neurological symptoms and MRI involvement of thalamus, putamen, and brainstem resembling Leigh syndrome. Our study of a mitochondrial translation disorder points toward the importance of posttranscriptional modification of mitochondrial tRNAs for proper mitochondrial function.

Importance of ventricular tachycardia storms not terminated by implantable cardioverter defibrillators shocks in patients with CASQ2 associated catecholaminergic polymorphic ventricular tachycardia.

In this study, the clinical and implantable cardioverter-defibrillator (ICD)-related follow-up of patients with catecholaminergic polymorphic ventricular tachycardia (CPVT) with homogenous missense mutations in CASQ2 was summarized. Patients were followed in a pediatric cardiology clinic and an ICD clinic. All patients were treated with high-dose ß blockers. ICDs were recommended for patients who remained symptomatic despite medical treatment. Twenty-seven patients were followed for 1 to 15 years (median 9). Twenty patients (74%) were symptomatic at diagnosis; 13 (65%) remained symptomatic after treatment with high-dose ß blockers and thus were advised to receive ICDs. Eight of these patients refused ICDs, and eventually 6 (75%) died suddenly. Four of the 5 patients who received ICDs had ventricular tachycardia storms treated but not terminated by recurrent ICD shocks. These ventricular tachycardia storms (2 episodes in 2 patients and 1 episode in 2 patient) terminated spontaneously after finishing the programmed ICD shocks, without degeneration to ventricular fibrillation. None of the patients who received ICDs died. In conclusion, patients with CASQ2-associated CPVT should be recommended to receive ICDs to prevent sudden death when medical therapy is not effective. These patients may have recurrent ventricular tachycardia storms treated but not terminated by recurrent ICD shocks, without degeneration to ventricular fibrillation.

Iatrogenic intra-atrial macro-reenterant tachycardia following transcatheter closure of atrial septal defect treated by radiofrequency ablation.

Percutaneous closure of an atrial septal defect (ASD) has been established as a safe and effective alternative to surgical management. We describe a case of a 41-year-old patient in whom an Amplatzer septal occluder device was used to close a moderately large ASD and who subsequently developed incessant intra-atrial macro-reenterant tachycardia. The tachycardia was terminated by radiofrequency ablation guided by electroanatomical mapping.

Optimizing catecholaminergic polymorphic ventricular tachycardia therapy in calsequestrin-mutant mice.

BACKGROUND: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a lethal arrhythmia provoked by physical or emotional stress and mediated by spontaneous Ca(2+) release and delayed after-depolarizations. Beta-adrenergic blockers are the therapy of choice but fail to control arrhythmia in up to 50% of patients. OBJECTIVE: To optimize antiarrhythmic therapy in recessively inherited CPVT caused by calsequestrin (CASQ2) mutations. METHODS: Murine heart rhythm telemetry was obtained at rest, during treadmill exercise, and after injection of epinephrine. The protocol was repeated after injection of different antiarrhythmic drugs. Results were then validated in human patients. RESULTS: Adult CASQ2 mutant mice had complex ventricular arrhythmia at rest and developed bidirectional and polymorphic ventricular tachycardia on exertion. Class I antiarrhythmic agents (procainamide, lidocaine, flecainide) were ineffective in controlling arrhythmia. Propranolol and sotalol attenuated arrhythmia at rest but failed to prevent VT during sympathetic stimulation. The calcium channel blocker verapamil showed a dose-dependent protection against CPVT. Verapamil was more effective than the dihydropyridine L-type Ca(2+) channel blocker nifedipine, and its activity was markedly enhanced when combined with propranolol. Human patients homozygous for CASQ2(D307H) mutation, remaining symptomatic despite chronic ß-blocker therapy, underwent exercise testing according to the Bruce protocol with continuous electrocardiogram recording. Verapamil was combined with propranolol at maximum tolerated doses. Adding verapamil attenuated ventricular arrhythmia and prolonged exercise duration in five of 11 patients. CONCLUSION: Verapamil is highly effective against catecholamine-induced arrhythmia in mice with CASQ2 mutations and may potentiate the antiarrhythmic activity of ß-blockers in humans with CPVT2.

The occurrence of cheyne-stokes respiration in congestive heart failure: the effect of age.

INTRODUCTION: Up to 50% of adults with congestive heart failure (CHF) and left ventricular dysfunction demonstrate Cheyne-Stokes respiration (CSR), although the mechanisms remain controversial. Because CSR has been minimally studied in children, we sought to assess the prevalence of CSR in children with low and high output cardiac failure. We hypothesized that the existence of CSR only in children with low output CHF would support the importance of circulatory delay as a CSR mechanism. METHODS: Thirty patients participated: 10 children with CHF, 10 matched children with no heart disease, and 10 adults with CHF. All participants underwent an in-laboratory polysomnographic sleep study. RESULTS: CHF children's average age (±SEM) was 3.6 ± 2.1 years vs. 3.7 ± 2 years in the age-matched control group. The average ejection fraction of three children with low output CHF was 22 ± 6.8%. The remaining seven had normal-high cardiac output. Compared to control children, CHF children were tachypneic and tachycardic during stable sleep (55.1 ± 6.7 vs. 26.9 ± 3 breath/min and 127.6 ± 8.7 vs. 97.6 ± 6.9 beats/min, respectively, p < 0.05 for both). They had shorter total sleep time (195 ± 49 vs. 373 ± 16 min, p < 0.05) with a low sleep efficiency of 65.6 ± 6%. None of the children had a pattern of CSR at any time during the studies while the adults with CHF had 40% prevalence of CSR. CONCLUSIONS: The complete absence of CSR in our sample of children with CHF compared to the 40% prevalence in the adults with CHF we studied, suggests that CSR may be an age-dependent phenomenon. Thus, we speculate that regardless of the exact mechanism which drives CSR, age is an over-riding factor.

Late high degree atrioventricular block after percutaneous closure of a perimembranous ventricular septal defect.

Atrioventricular block is an important complication after percutaneous closure of perimembranous ventricular septal defects. In the majority of cases, it appears in early or in the midterm of closure. We present a patient who developed symptomatic Mobitz 2 second-degree atrioventricular block 3 years following percutaneous closure of such a defect.

Prenatal diagnosis of fetal cardiac right ventricular diverticulum disappearing at three months of age. A case report and literature review.

Congenital cardiac diverticula are transmural localized protrusions within the free wall of the ventricles. Right ventricular diverticula are rarely diagnosed during the fetal period, and due to their rarity, their natural history remains unclear. We present a case of prenatal diagnosis of right ventricular diverticulum at 22 weeks' gestation. No other pathological findings were detected, the pregnancy and delivery were uneventful, and the diverticulum disappeared before the age of 3 months. Echocardiography of the infant at 1 year of age revealed no cardiac diverticulum or any cardiac anomaly and showed normal heart function. Literature review of all cases published to date reveal good outcome of right ventricular diverticula. We suggest reassuring our patients about the good prognosis of this cardiac anomaly.

Naproxen as an alternative to aspirin for the treatment of arthritis of rheumatic fever: a randomized trial.

We performed a prospective, randomized, open-label equivalence study comparing the use of naproxen to aspirin in 33 patients with rheumatic fever. The mean time until resolution of arthritis was 2.9+/-2.9 days in both groups. Liver enzyme elevations were more frequent in the aspirin group (P=.002). We conclude that naproxen is as effective, is easier to use, and is safer than aspirin in the treatment of the arthritis of rheumatic fever.

Cardiogenic shock complicating acute carbon monoxide poisoning despite neurologic and metabolic recovery.

We report the cases of 2 previously healthy young patients with acute carbon monoxide intoxication who deteriorated to cardiogenic shock in the face of apparent metabolic and neurologic recovery. Prolonged exposure to sublethal levels of carbon monoxide (>24 hours, carboxyhemoglobin level of 20.4% and 22.6%) and massive binding of the toxin to myocardial myoglobin and mitochondrial cytochrome chain enzymes might explain their protracted cardiac failure. The good response to inotropic agents and the findings of repeated echocardiographic studies support the probable diagnosis of myocardial stunning. Complete cardiac recovery was observed in both patients.

Diagnosis of congenital cardiac defects between 11 and 14 weeks' gestation in high-risk patients.

OBJECTIVE: To examine the feasibility of diagnosing congenital cardiac defects between 11 and 14 weeks' gestation in a high-risk population. METHODS: Fetal echocardiography was first offered at 11 to 14 weeks' gestation to all patients at risk for congenital heart defects. Echocardiography performed at 11 to 14 weeks with normal results was repeated at 14 to 16 and 20 to 24 weeks. Final diagnoses of cardiac anomalies that had been observed at 11 to 14 weeks were established at 14 to 16 weeks or later Fetal echocardiography performed at 14 to 16 weeks with normal results was repeated at 20 to 24 weeks. Ascertainment of cardiac anomalies was obtained by postnatal echocardiography or pathologic examination of the fetal heart after termination of pregnancy. Most of the examinations were performed transvaginally until 16 weeks. The transabdominal approach was used at this stage only when patients refused the transvaginal examination or because of technical difficulties. Three hundred ninety-two fetal echocardiographic examinations were performed between 11 and 14 weeks' gestation; 438 examinations were performed between 14 and 16 weeks; and 777 examinations were performed between 20 and 24 weeks. The major indications for fetal echocardiography at 11 to 14 weeks were maternal diabetes and previous pregnancy with congenital heart defects. RESULTS: Six of 7 major fetal cardiac anomalies were detected. The only major cardiac anomaly that was not detected between 11 and 14 weeks was correctly diagnosed at 22 weeks. Only 1 of 5 minor fetal cardiac anomalies was detected between 11 and 14 weeks. Another 2 minor fetal cardiac anomalies were detected at 23 weeks. Four incorrect diagnoses of minor cardiac anomalies were excluded on repeated fetal echocardiography between 20 and 24 weeks. CONCLUSIONS: The initial attempt to diagnose congenital heart defects should be offered at 11 to 14 weeks' gestation.