Catholic University of the Sacred Heart

About: Catholic University of the Sacred Heart is a education organization based out in Milan, Lombardia, Italy. It is known for research contribution in the topics: Population & Medicine. The organization has 13592 authors who have published 31048 publications receiving 853961 citations.

Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations

Abstract: Mutations in the GLI3 zinc-finger transcription factor gene cause Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS), which are variable but distinct clinical entities. We hypothesized that GLI3 mutations that predict a truncated functional repressor protein cause PHS and that functional haploinsufficiency of GLI3 causes GCPS. To test these hypotheses, we screened patients with PHS and GCPS for GLI3 mutations. The patient group consisted of 135 individuals: 89 patients with GCPS and 46 patients with PHS. We detected 47 pathological mutations (among 60 probands); when these were combined with previously published mutations, two genotype-phenotype correlations were evident. First, GCPS was caused by many types of alterations, including translocations, large deletions, exonic deletions and duplications, small in-frame deletions, and missense, frameshift/nonsense, and splicing mutations. In contrast, PHS was caused only by frameshift/nonsense and splicing mutations. Second, among the frameshift/nonsense mutations, there was a clear genotype-phenotype correlation. Mutations in the first third of the gene (from open reading frame [ORF] nucleotides [nt] 1–1997) caused GCPS, and mutations in the second third of the gene (from ORF nt 1998–3481) caused primarily PHS. Surprisingly, there were 12 mutations in patients with GCPS in the 3′ third of the gene (after ORF nt 3481), and no patients with PHS had mutations in this region. These results demonstrate a robust correlation of genotype and phenotype for GLI3 mutations and strongly support the hypothesis that these two allelic disorders have distinct modes of pathogenesis.

Lumbar intervertebral instability: a review.

Abstract: Intervertebral instability of the lumbar spine is thought to be a possible pathomechanical mechanism underlying low back pain and sciatica and is often an important factor in determining surgical indication for spinal fusion and decompression. Instability of the lumbar spine, however, remains a controversial and poorly understood topic. At present, much controversy exists regarding the proper definition of the condition, the best diagnostic methods, and the most efficacious treatment approaches. Clinical presentation is not specific, and the relationship between radiologic evidence of instability and its symptoms is controversial. Because of its simplicity, low expense, and pervasive availability, functional flexion-extension radiography is the most thoroughly studied and the most widely used method in the imaging diagnosis of lumbar intervertebral instability. In this article, we provide an overview of the current concepts of vertebral instability, focusing on degenerative lumbar intervertebral instabili...

Natural history of untreated idiopathic scoliosis after skeletal maturity.

Abstract: A total of 187 random cases of untreated idiopathic scoliosis, seen from a minimum of 15 to a maximum of 47 years after the end of growth, were reviewed. All curves increased after skeletal maturity (average progression: 0.4 degrees per year). Thoracic curves tend to progress more than lumbar, lumbar more than thoracolumbar, and thoracolumbar more than double major curves. Pain was present in 114 cases (61%) and appeared more frequently in women, after pregnancies, and with fatigue. Cardiopulmonary symptoms were present in 42 patients (22%), especially those with thoracic and thoracolumbar curves greater than 40 degrees. Psychologic disturbances were found in 35 cases (19%), mostly female patients with thoracic curves greater than 40 degrees. The cosmetic appearance of these patients at long-term follow-up was better compared with that at the end of growth, even though the curves progressed. Patients with decompensation of the trunk at the end of growth seemed to improve with time. In an unselected group of patients with severe curves a mortality rate of 17% was found, twice as much as in the Italian general population.

Tropospheric Ozone Assessment Report: Present-day tropospheric ozone distribution and trends relevant to vegetation

Abstract: This Tropospheric Ozone Assessment Report (TOAR) on the current state of knowledge of ozone metrics of relevance to vegetation (TOAR-Vegetation) reports on present-day global distribution of ozone at over 3300 vegetated sites and the long-term trends at nearly 1200 sites. TOAR-Vegetation focusses on three metrics over vegetation-relevant time-periods across major world climatic zones: M12, the mean ozone during 08:00–19:59; AOT40, the accumulation of hourly mean ozone values over 40 ppb during daylight hours, and W126 with stronger weighting to higher hourly mean values, accumulated during 08:00–19:59. Although the density of measurement stations is highly variable across regions, in general, the highest ozone values (mean, 2010–14) are in mid-latitudes of the northern hemisphere, including southern USA, the Mediterranean basin, northern India, north, north-west and east China, the Republic of Korea and Japan. The lowest metric values reported are in Australia, New Zealand, southern parts of South America and some northern parts of Europe, Canada and the USA. Regional-scale assessments showed, for example, significantly higher AOT40 and W126 values in East Asia (EAS) than Europe (EUR) in wheat growing areas (p TOAR-Vegetation provides recommendations to facilitate a more complete global assessment of ozone impacts on vegetation in the future, including: an increase in monitoring of ozone and collation of field evidence of the damaging effects on vegetation; an investigation of the effects on peri-urban agriculture and in mountain/upland areas; inclusion of additional pollutant, meteorological and inlet height data in the TOAR dataset; where not already in existence, establishing new region-specific thresholds for vegetation damage and an innovative integration of observations and modelling including stomatal uptake of the pollutant.

Randomised study of systematic lymphadenectomy in patients with epithelial ovarian cancer macroscopically confined to the pelvis

Abstract: No randomised trials have addressed the value of systematic aortic and pelvic lymphadenectomy (SL) in ovarian cancer macroscopically confined to the pelvis. This study was conducted to investigate the role of SL compared with lymph nodes sampling (CONTROL) in the management of early stage ovarian cancer. A total of 268 eligible patients with macroscopically intrapelvic ovarian carcinoma were randomised to SL (N=138) or CONTROL (N=130). The primary objective was to compare the proportion of patients with retroperitoneal nodal involvement between the two groups. Median operating time was longer and more patients required blood transfusions in the SL arm than the CONTROL arm (240 vs 150 min, P<0.001, and 36 vs 22%, P=0.012, respectively). More patients in the SL group had positive nodes at histologic examination than patients on CONTROL (9 vs 22%, P=0.007). Postoperative chemotherapy was delivered in 66% and 51% of patients with negative nodes on CONTROL and SL, respectively (P=0.03). At a median follow-up of 87.8 months, the adjusted risks for progression (hazard ratio [HR]=0.72, 95%CI=0.46–1.21, P=0.16) and death (HR=0.85, 95%CI=0.49–1.47, P=0.56) were lower, but not statistically significant, in the SL than the CONTROL arm. Five-year progression-free survival was 71.3 and 78.3% (difference=7.0%, 95% CI=–3.4–14.3%) and 5-year overall survival was 81.3 and 84.2% (difference=2.9%, 95% CI=−7.0–9.2%) respectively for CONTROL and SL. SL detects a higher proportion of patients with metastatic lymph nodes. This trial may have lacked power to exclude clinically important effects of SL on progression free and overall survival.