CDKL5 deficiency disorder: progressive brain atrophy may be part of the syndrome

The clinical phenotype of Cyclin-Dependent Kinase-Like 5 (CDKL5) deficiency disorder (CDD) has been delineated but neuroimaging features have not been systematically analyzed. We studied brain magnetic resonance imaging (MRI) scans in a cohort of CDD patients and reviewed age at seizure onset, seizure semiology, head circumference. Thirty-five brain MRI from 22 unrelated patients were included. The median age at study entry was 13.4 years. In 14/22 patients (85.7%), MRI in the first year of life was unremarkable in all but two. In 11/22, we performed MRI after 24 months of age (range 2.5-23 years). In 8 out of 11 (72.7%), MRI showed supratentorial atrophy and in six cerebellar atrophy. Quantitative analysis detected volumetric reduction of the whole brain (-17.7%, P-value = 0.014), including both white matter (-25.7%, P-value = 0.005) and cortical gray matter (-9.1%, P-value = 0.098), with a reduction of surface area (-18.0%, P-value = 0.032), mainly involving the temporal regions, correlated with the head circumference (& rho; = 0.79, P-value = 0.109). Both the qualitative structural assessment and the quantitative analysis detected brain volume reduction involving the gray and white matter. These neuroimaging findings may be related to either progressive changes due to CDD pathogenesis, or to the extreme severity of epilepsy, or both. Larger prospective studies are needed to clarify the bases for the structural changes we observed

Yield of diagnosis and risk of stroke with screening strategies for atrial fibrillation: a comprehensive review of current evidence.

Atrial fibrillation (AF) is the most prevalent arrhythmia worldwide. The presence of AF is associated with increased risk of systemic thromboembolism, but with the uptake of oral anticoagulant (OAC) and implementation of a holistic and integrated care management, this risk is substantially reduced. The diagnosis of AF requires a 30-s-long electrocardiographic (ECG) trace, irrespective of the presence of symptoms, which may represent the main indication for an ECG tracing. However, almost half patients are asymptomatic at the time of incidental AF diagnosis, with similar risk of stroke of those with clinical AF. This has led to a crucial role of screening for AF, to increase the diagnosis of population at risk of clinical events. The aim of this review is to give a comprehensive overview about the epidemiology of asymptomatic AF, the different screening technologies, the yield of diagnosis in asymptomatic population, and the benefit derived from screening in terms of reduction of clinical adverse events, such as stroke, cardiovascular, and all-cause death. We aim to underline the importance of implementing AF screening programmes and reporting about the debate between scientific societies' clinical guidelines recommendations and the concerns expressed by the regulatory authorities, which still do not recommend population-wide screening. This review summarizes data on the ongoing trials specifically designed to investigate the benefit of screening in terms of risk of adverse events which will further elucidate the importance of screening in reducing risk of outcomes and influence and inform clinical practice in the next future

Factors Associated with Progression of Atrial Fibrillation and Impact on All-Cause Mortality in a Cohort of European Patients

BackgroundParoxysmal atrial fibrillation (AF) may often progress towards more sustained forms of the arrhythmia, but further research is needed on the factors associated with this clinical course.MethodsWe analyzed patients enrolled in a prospective cohort study of AF patients. Patients with paroxysmal AF at baseline or first-detected AF (with successful cardioversion) were included. According to rhythm status at 1 year, patients were stratified into: (i) No AF progression and (ii) AF progression. All-cause death was the primary outcome.ResultsA total of 2688 patients were included (median age 67 years, interquartile range 60-75, females 44.7%). At 1-year of follow-up, 2094 (77.9%) patients showed no AF progression, while 594 (22.1%) developed persistent or permanent AF. On multivariable logistic regression analysis, no physical activity (odds ratio [OR] 1.35, 95% CI 1.02-1.78), valvular heart disease (OR 1.63, 95% CI 1.23-2.15), left atrial diameter (OR 1.03, 95% CI 1.01-1.05), or left ventricular ejection fraction (OR 0.98, 95% CI 0.97-1.00) were independently associated with AF progression at 1 year. After the assessment at 1 year, the patients were followed for an extended follow-up of 371 days, and those with AF progression were independently associated with a higher risk for all-cause death (adjusted hazard ratio 1.77, 95% CI 1.09-2.89) compared to no-AF-progression patients.ConclusionsIn a contemporary cohort of AF patients, a substantial proportion of patients presenting with paroxysmal or first-detected AF showed progression of the AF pattern within 1 year, and clinical factors related to cardiac remodeling were associated with progression. AF progression was associated with an increased risk of all-cause mortality

Incidence and Predictors of Infections and All-Cause Death in Patients with Cardiac Implantable Electronic Devices: The Italian Nationwide RI-AIAC Registry

The incidence of infections associated with cardiac implantable electronic devices (CIEDs) and patient outcomes are not fully known. To provide a contemporary assessment of the risk of CIEDs infection and associated clinical outcomes. In Italy, 18 centres enrolled all consecutive patients undergoing a CIED procedure and entered a 12-months follow-up. CIED infections, as well as a composite clinical event of infection or all-cause death were recorded. A total of 2675 patients (64.3% male, age 78 (70-84)) were enrolled. During follow up 28 (1.1%) CIED infections and 132 (5%) deaths, with 152 (5.7%) composite clinical events were observed. At a multivariate analysis, the type of procedure (revision/upgrading/reimplantation) (OR: 4.08, 95% CI: 1.38-12.08) and diabetes (OR: 2.22, 95% CI: 1.02-4.84) were found as main clinical factors associated to CIED infection. Both the PADIT score and the RI-AIAC Infection score were significantly associated with CIED infections, with the RI-AIAC infection score showing the strongest association (OR: 2.38, 95% CI: 1.60-3.55 for each point), with a c-index = 0.64 (0.52-0.75), p = 0.015. Regarding the occurrence of composite clinical events, the Kolek score, the Shariff score and the RI-AIAC Event score all predicted the outcome, with an AUC for the RI-AIAC Event score equal to 0.67 (0.63-0.71) p < 0.001. In this Italian nationwide cohort of patients, while the incidence of CIED infections was substantially low, the rate of the composite clinical outcome of infection or all-cause death was quite high and associated with several clinical factors depicting a more impaired clinical status

Reversible tremor in an infant with vitamin E deficiency and cystic fibrosis

Infants with a history of persistent coughing, unwellness, and a tremor should raise suspicions of having cystic fibrosis—even if all newborn screening tests are negative

Desmopressin in the treatment of nocturia in patients affected by neurogenic bladder

The efficacy and safety of desmopressin in the treatment of adults with nocturia have been assessed in several randomized trials, but few information exist on its application in patients affected by Parkinson's disease (PD) or Multiple Sclerosis (MS). The aim of the present study was to investigate the efficacy and safety of desmopressin administration in PD and MS patients affected by nocturia, in a medium term follow up

Botulinum A toxin intravesical injections improves sexual function in female patients affected by neurogenic detrusor overactivity

To date it is well know the role of onabotulinumtoxin-a (onabot/a) intravesical injection in significantly improving urinary symptoms, urodynamic dysfunction and Quality of Life in patients affected by neurogenic detrusor overactivity (NDO), but we do not know whether the neurotoxin is also able to improve the sexual life of these patients. The aim of the present study was to investigate the effects of onabot/a intravesically injected on urinary symptoms and sexual function in female patients affected by NDO

OnabotulinumtoxinA intravesical treatment in patients affected by overactive bladder syndrome: best practice in real-life management

PURPOSE: We evaluated intradetrusorial OnabotulinumtoxinA (Onabot/A) treatment protocols in patients with idiopathic overactive bladder (OAB), in order to assess the care of patients before, during and after treatment. METHODS: In 64 OAB patients injected with Onabot/A, we reviewed the length of the hospital stay, frequency of catheterization, frequency of intraoperative and postoperative complications, and patients' satisfaction to the proposed treatment protocol (as assessed by VAS). We also compared the results of the 3-day voiding diary, uroflowmetry with postvoid residual urine (PVR) and VAS to score the bother of urinary symptoms on quality of life (QoL) before and after treatment. RESULTS: Twenty-one patients were firstly treated in an 'inpatient' setting. The mean ± SD duration of hospitalization and catheterization was 39.4 ±12.6 and 37.8 ± 10.6 h, respectively. The mean ± SD VAS values of treatment satisfaction and of bother of urinary symptoms on QoL were 6.3 ± 1.1 and 8.2 ± 1.3, respectively. The mean ± SD PVR value was 74.3 ± 15.2 ml. Frequency of UTIs was 2.4 ± 1.6. Forty-three patients were treated on an outpatient basis; the mean ± SD duration of catheterization, the 'outpatient' stay and the mean ± SD frequency of UTIs were lower than those of patients treated in an inpatient setting. The mean ± SD VAS value to score QoL was high. CONCLUSIONS: Intradetrusorial Onabot/A injection is a simple and fast procedure that can be easily carried on in an outpatient setting under local anesthesia, with low rates of intraoperative and postoperative complications

Colour calibration for quantitative biological analysis: a novel automated multivariate approach

Martech 2009 Third Marine Technology Workshop, 19-20 november 2009, Vilanova i la Geltrú, BarcelonaPeer Reviewe