Assessment of copy number variations in 120 patients with Poland syndrome

Poland Syndrome (PS) is a rare congenital disorder presenting with agenesis/hypoplasia of the pectoralis major muscle variably associated with thoracic and/or upper limb anomalies. Most cases are sporadic, but familial recurrence, with different inheritance patterns, has been observed. The genetic etiology of PS remains unknown. Karyotyping and array-comparative genomic hybridization (CGH) analyses can identify genomic imbalances that can clarify the genetic etiology of congenital and neurodevelopmental disorders. We previously reported a chromosome 11 deletion in twin girls with pectoralis muscle hypoplasia and skeletal anomalies, and a chromosome six deletion in a patient presenting a complex phenotype that included pectoralis muscle hypoplasia. However, the contribution of genomic imbalances to PS remains largely unknown

Global and Regional IUCN Red List Assessments: 1

In this contribution, the conservation status assessment of six plant species according to IUCN categories and criteria are presented. It includes the assessment at global level of Linaria tonzigii Lona, Allium garganicum Brullo, Pavone, Salmeri & Terrasi, Ferula arrigonii Bocchieri, Orchis patens Desf. subsp. patens and Armeria saviana Selvi and the assessment at regional level (Italy) of Viola jordanii Hanry

Early and Long-Term Results of Stent Implantation for Aortic Coarctation in Pediatric Patients Compared to Adolescents: A Single Center Experience

Background. Stents have become the treatment of choice for native aortic coarctation in adults and adolescents, but in pediatric patients insufficient data are currently available to identify the best therapeutic option. Methods. To compare the outcomes of pediatric and adolescent patients, we retrospectively evaluated early and long-term results of stenting for aortic coarctation in 34 patients divided into 2 groups (A and B) composed, respectively, of 17 children (mean age 8.2±2.3, weight ≤30 kg) and 17 adolescents (mean age 14.3±1.7, weight >30 kg). Results. No significant differences in outcome were found between groups immediately after the procedure. In all of our patients, peak systolic gradient pressure significantly decreased after stenting from 43.7±12 to 1.7±3.1 mmHg in group A and from 39.4±16.8 to 1.6±3 in group B (p<0.0001). We observed early and late adverse events in both groups: early femoral vessel injury or thrombosis was more frequent in younger patients, as well as restenosis due to vessel growth requiring stent redilatations, often complicated by stent fractures. Data from long-term follow-up showed that, in younger patients, stress-related hypertension was more frequent. Conclusions. The procedure was immediately safe and effective in both groups. Pediatric patients must be accurately selected before stenting because they could probably need reinterventions and stents could impact on their future therapeutic perspectives

Is the Distribution of Two Rare Orchis Sister Species Limited by Their Main Mycobiont?

As orchids rely on their mycorrhizal fungi for nutrient supply, their spatial range is dependent on the distribution of orchid mycorrhizal (OM) fungi. We addressed possible correlations between mycorrhizal specificity and the geographic distribution of orchids and OM fungi in three populations of the rare sister species Orchis patens and O. canariensis. Metabarcoding of the fungal ITS2 region indicated that, although adult plants of either species were colonized by several ceratobasidioid, tulasnelloid, sebacinoid and serendipitoid fungi, the mycobiont spectra were dominated by Tulasnella helicospora (which occurred in 100% of examined plants with high read numbers), which is a globally distributed fungus. In vitro assays with a T. helicospora isolate obtained from O. patens indicated the effectiveness of this OM fungus at germinating seeds of its native host. At a local scale, higher read numbers for T. helicospora were found in soil samples collected underneath O. patens roots than at locations unoccupied by the orchid. Although these findings suggest that the geographical pattern of the main fungal symbiont does not limit the distribution of O. patens and O. canariensis at this scale, the actual causal link between orchid and OM fungal occurrence/abundance still needs to be better understood