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Background The current study represents the preliminary report of an Italian regional project aimed to monitor the status of young athletes in modern times and linking it to the monitoring started in the nineties. Methods After the preparatory stage, data were analysed and discussed with coaches and researchers. Next, for the main stage, the coaches performed the tests and the supervisors reported them in a database. A total number of 173 participants (age = 10.64 ± 2.42 years, BMI = 18.43 ± 3.49 Kg/m2) were tested for standing long jump, sit and reach, 10×4 Shuttle Run, 3 Kg-medical ball throw, and Sergeant test. Nine sports disciplines were represented. Results 46.5% of the participants trained more than twice a week and 15.8% of the participants played more than 1 discipline. Girls were more flexible than boys, and differences emerged in the Sergeant and Shuttle Run test, with boys outperforming girls in older ages. Conclusions The "sentinel" role of sports societies, in terms of health and developmental risks, should represent valuable accountability. Authors advocate a specific focus shall be directed to the risks of youth sports specialization, gender-related developmental trajectories, long-life physical activity, and sport engagement.

Pseudoexfoliation (PEX) syndrome is a common ocular disease that also affects the cornea. A case of clinical PEX syndrome, studied by in vivo corneal confocal microscopy is reported. The morphological analysis of the confocal images demonstrated hyper-reflective deposits and several dendritic cells in the basal epithelial layer. A fibrillar subepithelial structure was also found. The endothelial layer showed cell anomalies (polymegathism and pleomorphism) and hyper-reflective small endothelial deposits. Confocal microscopy is an in vivo imaging method that may provide new information on corneal alterations in PEX, and detect early corneal features.

Deletion 22q11.2 (del22q11.2) syndrome, also known as DiGeorge/Velo-cardio-facial syndrome (DG/VCFS), and Alagille syndrome are genetic disorders characteristically associated with congenital heart defects (CHDs). We report on a patient with tetralogy of Fallot (TOF) and clinical features of DG/VCFS, hemizygous for del22q11.2 and heterozygous for the 2810G > A (p.Arg937Gln) mutation in the JAG1 gene associated with Alagille syndrome. The clinical features of del22q11.2 syndrome are present in the patient, including facial anomalies, typical TOF, speech delay with hypernasal voice, and learning difficulties. TOF and mild hepatic involvement, consisting of slightly elevated aminotransferase conjugated bilirubin levels, were the only features of Alagille syndrome in our patient. The anatomic type of TOF displayed no distinctive recognizable pattern for either DG/VCFS or Alagille syndrome. It is likely that hemizygosity of the TBX1 gene was causally related to TOF in this patient, although a synergistic pathogenic role of the JAG1 gene mutation in causing the heart defect cannot be excluded. JAG1 mutations have been previously detected in patients with nonsyndromic TOF and recent molecular evidence supports the cumulative effect of multiple genetic defects in the etiology of human malformations. We hypothesize that a similar mechanism could be present in this patient with del22q11.2 syndrome associated with a JAG1 missense mutation acting as possible modifier factor for TOF.

GATA4mutations are found in patients with different isolated congenital heart defects (CHDs), mostly cardiac septal defects and tetralogy of Fallot. In addition,GATA4is supposed to be the responsible gene for the CHDs in the chromosomal 8p23 deletion syndrome, which is recognized as a malformation syndrome with clinical symptoms of facial anomalies, microcephaly, mental retardation, and congenital heart defects. Thus far, no study has been carried out to investigate the role ofGATA4copy number variations (CNVs) in non-syndromic CHDs. To explore the possible occurrence ofGATA4gene CNVs in isolated CHDs, we analyzed by multiplex ligation-dependent probe amplification (MLPA) a cohort of 161 non-syndromic patients with cardiac anomalies previously associated withGATA4gene mutations. The patients were mutation-negative forGATA4,NKX2.5, andFOG2genes after screening with denaturing high performance liquid chromatography. MLPA analysis revealed that normalized MLPA signals were all found within the normal range values for all exons in all patients, excluding a major contribution ofGATA4gene CNVs in CHD pathogenesis.

PURPOSETo evaluate aberrometric outcomes in eyes with posterior capsule opacification after 2.5-mm Nd:YAG laser capsulotomy compared to pseudophakic eyes without posterior capsule opacification. METHODSPhotographic image analysis of posterior capsule opacification was performed on 36 eyes that showed advanced posterior capsule opacification (case group) and on 36 eyes which showed absence of posterior capsule opacification (control group). Best spectacle-corrected visual acuity (BSCVA) and wavefront analysis were performed in the control group and in the case group after 2.5-mm capsulotomy. RESULTSMean BSCVA in the case group after treatment was significantly higher than before treatment (PP>.1). Aberrometric analysis was performed on the control group, but light scattering prevented the analysis in posterior capsule opacification before capsulotomy, which was then performed after the intervention in 18 (50%) eyes. Mean total high order aberrations and 3rd order aberrations were significantly higher in the case group than in the control group (PP>.06). CONCLUSIONSOur wavefront results can detect a deterioration of visual quality in patients that underwent a 2.5-mm Nd:YAG capsulotomy compared to pseudophakic patients not affected by posterior capsule opacification. This difference cannot be detected by standard visual acuity examination. Further study is needed to clarify whether our high order aberration findings were related to small, 2.5-mm capsulotomies and whether aberrometry may be indicative for mild to moderate posterior capsule opacification. [J Refract Surg. 2008;24:702-706.] ABOUT THE AUTHORS From the Department of Ophthalmology and Neurosurgery, University of Siena, Siena, Italy. This study was supported by the University of Siena; and the Monte dei Paschi Bank Foundation, Siena, Italy. The authors have no proprietary or financial interest in the materials presented herein. Correspondence: Angelo Balestrazzi, MD, PhD, Dipartimento di Scienze Oftalmologiche e Neurochirurgiche, Università di Siena, Viale Bracci 1, 53100 Siena, Italy. Tel: 39 0577 585660; Fax: 39 0577 586162; E-mail: balestrazzi@unisi.it Received: September 6, 2006 Accepted: September 5, 2007 Posted online: January 31, 2008