Nevoid Basal Cell Carcinoma Syndrome: Report from the Zurich Nevoid Basal Cell Carcinoma Syndrome Cohort.

BACKGROUND: Nevoid basal cell carcinoma syndrome (NBCCS, Gorlin-Goltz syndrome) presents various symptoms and can disfigure patients. The estimated prevalence is around 1:100,000. OBJECTIVE: To systematically investigate the clinical manifestations of NBCCS patients of the Zurich register and compare them with those described in 4 epidemiological studies performed in other countries. METHODS: We analyzed patient characteristics and clinical manifestations in a register of 30 NBCCS patients in Zurich, Switzerland. We compared our findings to the results of 4 epidemiological studies performed in America, Australia, Japan and the UK. RESULTS: We obtained information concerning basal cell carcinomas (BCCs) and jaw cysts from 28 patients out of our population of 30 NBCCS patients. The mean age at onset of the first BCC was 24 years, and the mean age at diagnosis of the first jaw cyst was 15.6 years. The average number of jaw cysts was 8.4; the average number of BCCs was 207. 72.5% of the examined BCCs showed a nodular histology, but we also found scirrhous and superficial types. CONCLUSION: The disease burden associated with NBCCS diagnosed in Swiss patients is significant and comparable to that of other countries. Regular skin examination and oromaxillary examinations should be performed early in diagnosis, and patients should undergo early UV protection. Nodular BCC is the most common BCC subtype in this patient population.

Improvement of cardiac function with device-based diaphragmatic stimulation in chronic heart failure patients: the randomized, open-label, crossover Epiphrenic II Pilot Trial.

AIMS: Device-based pacing-induced diaphragmatic stimulation (PIDS) may have therapeutic potential for chronic heart failure (HF) patients. We studied the effects of PIDS on cardiac function and functional outcomes. METHODS AND RESULTS: In 24 chronic HF patients with CRT, an additional electrode was attached to the left diaphragm. Randomized into two groups, patients received the following PIDS modes for 3 weeks in a different sequence: (i) PIDS off (control group); (ii) PIDS 0 ms mode (PIDS simultaneously with ventricular CRT pulse); or (iii) PIDS optimized mode (PIDS with optimized delay to ventricular CRT pulse). For PIDS optimization, acoustic cardiography was used. Effects of each PIDS mode on dyspnoea, power during exercise testing, and LVEF were assessed. Dyspnoea improved with the PIDS 0 ms mode (P = 0.057) and the PIDS optimized mode (P = 0.034) as compared with the control group. Maximal power increased from median 100.5 W in the control group to 104.0 W in the PIDS 0 ms mode (P = 0.092) and 109.5 W in the PIDS optimized mode (P = 0.022). Median LVEF was 33.5% in the control group, 33.0% in the PIDS 0 ms mode, and 37.0% in the PIDS optimized mode (P = 0.763 and P = 0.009 as compared with the control group, respectively). PIDS was asymptomatic in all patients. CONCLUSION: PIDS improves dyspnoea, working capacity, and LVEF in chronic HF patients over a 3 week period in addition to CRT. This pilot study demonstrates proof of principle of an innovative technology which should be confirmed in a larger sample. TRIAL REGISTRATION: NCT00769678.

Continuous respiratory monitoring for sleep apnea screening by ambulatory hemodynamic monitor.

AIM: To validate the sleep-disordered breathing components of a portable electrocardiography and hemodynamic monitor to be used for sleep apnea screening. METHODS: Sleep-disordered breathing (SDB) is associated with cardiovascular disease. Patients with existing cardiovascular disease may have unrecognized SDB or may develop SDB while under the care of a cardiologist. A screening device for SDB, easy to use and appealing to cardiologists, would assist in referral of appropriate patients for full polysomnography (PSG). A cardiac and respiratory monitor (CPAM) was attached to patients undergoing PSG and an apnea/hypopnea index (AHI) generated. The CPAM device produced respiration rate, snoring rate, individual apnea/hypopnea events and an SDB severity score (SDBSS). In addition to AHI, an expert over-reader annotated individual breaths, snores and SDB breathing events to which the automated algorithms were compared. RESULTS: The test set consisted of data from 85 patients (age: 50.5 ± 12.4 years). Of these, 57 had a positive PSG defined as AHI ≥ 5.0 (mean: 30.0 ± 29.8, negative group mean: 1.5 ± 1.2). The sensitivity and specificity of the SDBSS compared to AHI was 57.9% and 89.3%, respectively. The correlation of snoring rate by CPAM compared to the expert over-reader was r = 0.58 (mean error: 1.52 snores/min), while the automated respiration rate had a correlation of r = 0.90 (mean error: 0.70 breaths/min). CONCLUSION: This performance assessment shows that CPAM can be a useful portable monitor for screening and follow-up of subjects for SDB.

Assessment of systolic and diastolic function in asymptomatic subjects using ambulatory monitoring with acoustic cardiography.

BACKGROUND: Adequately recording diastolic heart sounds and systolic time intervals over longer periods is difficult. Thus, information on the circadian variation of these parameters in an ambulatory population is lacking. Moreover, age-related changes in the prevalence of diastolic heart sounds and measurements of systolic time intervals in an asymptomatic population have not been studied in continuous recordings. HYPOTHESIS: Diastolic heart sounds and systolic time intervals will have age and circadian variations that reflect known changes in cardiac function due to aging and circadian rhythms. METHODS: We studied 128 asymptomatic subjects wearing an ambulatory monitor with acoustic cardiography. The recording spanned a mean duration of 14 hours, including sleep. Data were analyzed for the presence of third (S3) and fourth (S4) heart sounds and for systolic time intervals. RESULTS: In these asymptomatic subjects, S3 was significantly more prevalent in those age <40 years than in those age >40 years, and significantly more pronounced during sleep in the younger group. Also, S4 was significantly more prevalent in those age >40 years and significantly more pronounced during sleep in those age >40 years. In contrast, time intervals reflecting systolic function showed less circadian variation and less worsening with age. CONCLUSIONS: The nocturnal increase of S4 in the elderly reflects diastolic impairment-likely a result of changes in diastolic filling patterns with increasing age. An S3 after the age of 40 is a relatively uncommon finding and therefore should be a specific sign of cardiac disease. Continuous monitoring of diastolic heart sounds and systolic time intervals is possible using acoustic cardiography.

Assessment of systolic and diastolic function in heart failure using ambulatory monitoring with acoustic cardiography.

INTRODUCTION. The circadian variation of heart function and heart sounds in patients with and without heart failure (HF) is poorly understood. We hypothesized HF patients would exhibit less circadian variation with worsened cardiac function and sleep apnea. METHODS. We studied 67 HF patients (age 67.4 ± 8.2 years; 42% acute HF) and 63 asymptomatic control subjects with no history of HF (age 61.6 ± 7.7 years). Subjects wore a heart sound/ECG/respiratory monitor. The data were analyzed for sleep apnea, diastolic heart sounds, and systolic time intervals. RESULTS. The HF group had significantly greater prevalence of the third heart sound and prolongation of electro-mechanical activation time, while the control group had an age-related increase in the prevalence of the fourth heart sound. The control group showed more circadian variation in cardiac function. The HF subjects had more sleep apnea and higher occurrence of heart rate non-dipping. CONCLUSIONS. The control subjects demonstrated an increasing incidence of diastolic dysfunction with age, while systolic function was mostly unchanged with aging. Parameters related to systolic function were significantly worse in the HF group with little diurnal variation, indicating a constant stimulation of sympathetic tone in HF and reduction of diurnal regulation.

Noninvasive detection of left-ventricular systolic dysfunction by acoustic cardiography in atrial fibrillation.

Objectives. Assessment of left ventricular (LV) systolic function in patients with atrial fibrillation can be difficult. Acoustic cardiography provides several parameters for quantifying LV systolic function. We evaluated the ability of acoustic cardiography to detect LV systolic dysfunction in patients with and without atrial fibrillation. Design. We studied 194 patients who underwent acoustic cardiography and cardiac catheterization including measurement of angiographic ejection fraction (EF) and maximum LV dP/dt. LV systolic dysfunction was defined as LV maximum dP/dt <1600 mmHg/s. Acoustic cardiographic parameters included electromechanical activation time (EMAT) and the systolic dysfunction index (SDI). Results. Acoustic cardiography detected systolic dysfunction with high specificity and moderate sensitivity with similar performance to EF (sensitivity/specificity without afib: EMAT 30/96, SDI 40/90, EF at 35% 30/96; sensitivity/specificity with afib: EMAT 64/82, SDI 59/100, EF at 35% 45/82). Conclusions. Acoustic cardiography can be used for diagnosis of LV systolic dysfunction in atrial fibrillation.