Joint analysis of BICEP2/keck array and Planck Data.

We report the results of a joint analysis of data from BICEP2/Keck Array and Planck. BICEP2 and Keck Array have observed the same approximately 400 deg^{2} patch of sky centered on RA 0 h, Dec. -57.5°. The combined maps reach a depth of 57 nK deg in Stokes Q and U in a band centered at 150 GHz. Planck has observed the full sky in polarization at seven frequencies from 30 to 353 GHz, but much less deeply in any given region (1.2 µK deg in Q and U at 143 GHz). We detect 150×353 cross-correlation in B modes at high significance. We fit the single- and cross-frequency power spectra at frequencies ≥150 GHz to a lensed-ΛCDM model that includes dust and a possible contribution from inflationary gravitational waves (as parametrized by the tensor-to-scalar ratio r), using a prior on the frequency spectral behavior of polarized dust emission from previous Planck analysis of other regions of the sky. We find strong evidence for dust and no statistically significant evidence for tensor modes. We probe various model variations and extensions, including adding a synchrotron component in combination with lower frequency data, and find that these make little difference to the r constraint. Finally, we present an alternative analysis which is similar to a map-based cleaning of the dust contribution, and show that this gives similar constraints. The final result is expressed as a likelihood curve for r, and yields an upper limit r_{0.05}<0.12 at 95% confidence. Marginalizing over dust and r, lensing B modes are detected at 7.0σ significance.

PLP1 duplication at the breakpoint regions of an apparently balanced t(X;22) translocation causes Pelizaeus-Merzbacher disease in a girl.

PLP1 (proteolipid protein1 gene) mutations cause Pelizaeus-Merzbacher disease (PMD), characterized by hypomyelination of the central nervous system, and affecting almost exclusively males. We report on a girl with classical PMD who carries an apparently balanced translocation t(X;22)(q22;q13). By applying array-based comparative genomic hybridization (a-CGH), we detected duplications at 22q13 and Xq22, encompassing 487-546 kb and 543-611 kb, respectively. The additional copies were mapped by fluorescent in situ hybridization to the breakpoint regions, on the derivative X chromosome (22q13 duplicated segment) and on the derivative 22 chromosome (Xq22 duplicated segment). One of the 14 duplicated X-chromosome genes was PLP1.The normal X chromosome was the inactive one in the majority of peripheral blood leukocytes, a pattern of inactivation that makes cells functionally balanced for the translocated segments. However, a copy of the PLP1 gene on the derivative chromosome 22, in addition to those on the X and der(X) chromosomes, resulted in two active copies of the gene, irrespective of the X-inactivation pattern, thus causing PMD. This t(X;22) is the first constitutional human apparently balanced translocation with duplications from both involved chromosomes detected at the breakpoint regions.

[Management of pleural drainage]. / La gestione del drenaggio pleurico.

In the neonatal population, pleural effusion and particularly tension pneumothorax can be a deadly situation. Pneumothorax occurs more often in the neonatal period that any other time of life. Tension pneumothorax can result in very high pressures within the pleural space, collapsing the lung on the involved side and resulting in immediate hypoxia, hypercapnia and subsequent circulatory collapse. For these reasons, the ability to recognize, understand and treat these pathologies is essential for neonatal health and a good outcome. Neonates have many factors that can contribute to. these problems. These include respiratory distress syndrome, mechanical ventilation, sepsis, pneumonia, aspiration of meconium, congentital malformation, hydrothorax, congenital or acquired chylothorax. The diagnosis can be made by clinical examination, transillumination (pneumothorax) and chest x-ray. Besides, lung ultrasound constitutes a visual medicine and provides a transparent approach to the acutely ill patient, newborn included, guiding diagnosis, management and care. Newborns with moderate to severe symptoms and those receiving positive pressure ventilation require tube thoracostomy. If a tension pneumothorax is suspected, emergency needle decompression in the second intercostal space in the midclavicular line is required. In this article, we describe the management of tube thoracostomy using trocar tubes or pigtail catheters. Besides, we pay attention to the use of pain control for neonates undergoing painful procedures such as chest tube insertion.

[How to improve clinical competence]. / Come migliorare la qualità professionale.

Every day there are many patients that suffer or undergo more or less serious damage to their health because of the poor quality of healthcare they receive. Most of these injuries could be avoided by improving the professional quality of healthcare. This presentation outlines an ideal pathway by providing methodological indications and practical tools to clinicians and healthcare workers who wish to increase their skills in planning, supporting and evaluating initiatives of professional quality improvement in their organizations. In particular, the article indicates how clinical competence can be expressed, measured, evaluated and improved. To this end we introduce some basic concepts relative to efficacy (is what I do for my patients useful?), appropriateness (am I doing it to the right persons?) and effectiveness (does the treatment, when transferred to a local operating context, improve the health of the patients receiving it?). The article gives some suggestions to measure quality through process indicators (what has been done to the patients during the process of caring) and outcome indicators (the benefits obtained by the patients from the treatments received), highlighting both advantages and limitations. We then introduce four increasingly complex models for evaluating health interventions: descriptive evaluation, process evaluation, outcome evaluation and experimental designs. Finally, we describe Shewhart's cycle of continuous improvement, which is a useful tool for implementing, directing and spreading continuous quality improvement into an healthcare organisation.

[An operating model for assessing the practical efficacy of screening tests: the case of amblyopia]. / Modello operativo per la valutazione dell'efficacia pratica dei test di screening: il caso dell'ambliopia.

Standard for assessing the efficacy of screening programs are at present well-established. Nevertheless, the effectiveness of screening programs can reduced by several factors in real world conditions. The aim of this work is to check the feasibility of an operational model for the practical evaluation of the effectiveness of screening programs. In this model seven critical points are defined (recruitment, screening test sensitivity, access to diagnostic services, diagnosis, compliance to follow-up, treatment compliance, therapy) and their contribution to the reduction of potential effectiveness is calculated. For each point consequent problem(s) and possible solutions are predefined. The model was tested with the results of the screening program for amblyopia of the Community Health Service of USL 32 Treviglio (BG) assuming 40% and 97% sensitivity of the screening test. For this screening the reduction of effectiveness at the seven critical points ranged from 0 to 60%, with a total reduction of effectiveness to 15.6-37.8%. The operational model was used to identify causes of this reduction. This kind of analysis is proposed as a tool for evaluation and improvement of the effectiveness of efficacious screening program.

[Colposcopic-histologic results in 97 patients with mild dysplasia shown by Pap test]. / Esito colposcopico-istologico in 97 pazienti con displasia lieve al pap-test.

Colposcopy and biopsy were performed in 97 patients whose referral smears showed mild dysplasia (CIN 1). Of 97 women, 40 (41.2%) had a biopsy or a colposcopic examination alone considered normal, 36 (37.1%) had CIN 1 or HPV changes, 12 (12.4%) had CIN 2 and 9 (9.3%) had CIN 3. No invasive cancer was detected. This data suggest that, if colposcopy resources are available, repeat smear alone is inadequate to follow women who have a mild dysplasia smear.

Effectiveness of nonsurgical treatment for idiopathic scoliosis. Overview of available evidence.

To define further the effectiveness of nonsurgical therapy for idiopathic scoliosis, predefined criteria were established for selection and data retrieval from studies of therapy and natural history, and the results were synthesized quantitatively. Only studies of patients with no more than a 50 degree Cobb angle scoliosis were considered. Twenty-four reports were eligible. There was a fivefold proportion of failures among patients with scoliosis greater than 30 degrees at the start of therapy but no difference in progression between different kinds of nonsurgical therapies or between treated and untreated patients; these were the main findings of this quantitative analysis. These data cannot be used to prove the effectiveness or ineffectiveness of nonsurgical therapy for idiopathic scoliosis, and experimental controlled studies of different therapies seem to be justified both on ethical and scientific grounds. The findings of this overview can be used for their planning.