Search

Several studies showed significant differences between bench lift exercises without investigating which is more related, in biomechanical and neuromuscular terms, to improve the sprint flatwater kayak performance. This study aims to compare the power-load and velocity-load neuromuscular parameters performed in prone bench pull (PBP), and bench press (BP) exercises to identify which of them meet the gesture specificity in sprint flatwater kayak performance. Ten elite kayakers participated in this study. Power-load, velocity-load relationships, the maximum dynamic strength, and the kayak sprint performance test were assessed. The power-load and velocity-load relationships showed significant differences between the PBP and BP for each considered load. The kayakers showed a significant correlation between maximum power performed on the PBP and the maximum velocity reached in the kayak sprint (r = 0.80, p < 0.01) and the stroke frequency (r = 0.61, p < 0.05). Conversely, the maximum power performed on the BP did not correlate with the kinematic parameters analyzed. In addition, the maximum dynamic strength in the PBP and BP did not correlate with the maximum velocity and stroke frequency. Furthermore, no significant difference was observed in both the bench exercises for the maximum dynamic strength (p > 0.05). The results of this study suggest that the maximal muscular power expressed in PBP exercise only seems to be more specific in kayak velocity performance compared with maximal dynamic strength and with all dynamic parameters recorded in the BP. This will allow coaches and trainers to use specific bench exercises for specific neuromuscular kayakers’ adaptations during the whole competitive season.

Deletions on chromosome 15q14 are a known chromosomal cause of cleft palate, typically co-occurring with intellectual disability, facial dysmorphism, and congenital heart defects. The identification of patients with loss-of-function variants in MEIS2, a gene within this deletion, suggests that these features are attributed to haploinsufficiency of MEIS2. To further delineate the phenotypic spectrum of the MEIS2-related syndrome, we collected 23 previously unreported patients with either a de novo sequence variant in MEIS2 (9 patients), or a 15q14 microdeletion affecting MEIS2 (14 patients). All but one de novo MEIS2 variant were identified by whole-exome sequencing. One variant was found by targeted sequencing of MEIS2 in a girl with a clinical suspicion of this syndrome. In addition to the triad of palatal defects, heart defects, and developmental delay, heterozygous loss of MEIS2 results in recurrent facial features, including thin and arched eyebrows, short alae nasi, and thin vermillion. Genotype–phenotype comparison between patients with 15q14 deletions and patients with sequence variants or intragenic deletions within MEIS2, showed a higher prevalence of moderate-to-severe intellectual disability in the former group, advocating for an independent locus for psychomotor development neighboring MEIS2.

Local Allergic Rhinitis (LAR) is an emerging disease. However, its incidence in the pediatric popolution has not yet been studied. The gold standard for the diagnosis is the nasal provocation test that is not everywhere avalaible and difficult to apply in children. The aim of our study was to evaluate the nasal lavage fluid IgE as a biomarker of LAR in children. 54 pediatric patients [IQR 4.0-12.0 years] were divided into 3 groups: study group (26 children with rhinitis symptoms and without evidence of systemic atopy); allergic rhinitis (AR) group (15 children) and 13 healty controls (HC). Every child was subjected to nasal lavage using 2 ml/nostril of physiologic saline solution, that was therefore analyzed by ImmunoCAP to obtain the IgE concentration. Rhinofibroscopy and nasal cytology were performed. Our data showed the presence of higher value of nasal lavage fluid IgE (average of 6.005 UI/ml; range: 4.47-7.74 UI/ml) in 16 out of 26 patients of the study group who therefore may be classified as affected by LAR. We observed a statistically significant difference (P< 0.0001) between NAR/HC group and LAR group, identifying a cut-off of 3.85 UI/ml. Finally, we found a better response to previous AR therapy in the LAR group than in the NAR group. Our data showed the high incidence of LAR in pediatric patients previously classified as NAR. The measurment of IgE in nasal lavage fluid may be considered an easy and rapid method for the diagnosis of LAR in children. Besides, our data add confirmatory evidence about the good response of LAR children to the classic AR therapy.

Background The Dandy-Walker malformation (DWM) is one of the commonest congenital cerebellar defects, and can be associated with multiple congenital anomalies and chromosomal syndromes. The occurrence of overlapping 3q deletions including the ZIC1 and ZIC4 genes in few patients, along with data from mouse models, have implicated both genes in the pathogenesis of DWM. Methods and results Using a SNP-array approach, we recently identified three novel patients carrying heterozygous 3q deletions encompassing ZIC1 and ZIC4. Magnetic resonance imaging showed that only two had a typical DWM, while the third did not present any defect of the DWM spectrum. SNP-array analysis in further eleven children diagnosed with DWM failed to identify deletions of ZIC1-ZIC4. The clinical phenotype of the three 3q deleted patients included multiple congenital anomalies and peculiar facial appearance, related to the localization and extension of each deletion. In particular, phenotypes resulted from the variable combination of three recognizable patterns: DWM (with incomplete penetrance); blepharophimosis, ptosis, and epicanthus inversus syndrome; and Wisconsin syndrome (WS), recently mapped to 3q. Conclusions Our data indicate that the 3q deletion is a rare defect associated with DWM, and suggest that the hemizygosity of ZIC1-ZIC4 genes is neither necessary nor sufficient per se to cause this condition. Furthermore, based on a detailed comparison of clinical features and molecular data from 3q deleted patients, we propose clinical diagnostic criteria and refine the critical region for WS.

Pontine Tegmental Cap Dysplasia (PTCD) is a recently described, rare disorder characterized by a peculiar cerebellar and brainstem malformation. Nineteen patients have been reported to date, of which only one in the adolescent age, and data on the clinical, cognitive and behavioural outcome of this syndrome are scarce. Here we describe three adolescent patients with PTCD. All presented bilateral deafness and multiple cranial neuropathies, variably associated with skeletal, cardiac and gastro-intestinal malformations. Feeding and swallowing difficulties, that are often causative of recurrent aspiration pneumonias and death in the first years of life, completely resolved with age in all three patients. Neuropsychological assessment showed borderline to moderate cognitive impairment, with delay in adaptive functioning, visual-spatial and language deficits. Two of three patients also showed mild behavioural problems, although their overall socialization abilities were well preserved. Cochlear implantation in two patients significantly improved their relational and learning abilities. Fibre tractography confirmed the abnormal bundle of transversely oriented fibres forming the typical pontine "tegmental cap" and absence of decussation of the superior cerebellar peduncles, supporting the hypothesis that PTCD results from abnormal axonal guidance and/or migration. These data indicate that PTCD may have a favourable long-term outcome, with borderline cognitive deficit or even normal cognition and partially preserved speech.