Achilles Tendon mechanical behavior and ankle joint function at the walk-to-run transition

Walking at speeds higher than transition speed is associated with a decrease in the plantar-flexor muscle fibres' ability to produce force and, potentially, to an impaired behaviour of the muscle-tendon unit (MTU) elastic components. This study aimed to investigate the ankle joint functional indexes and the Achilles tendon mechanical behaviour (changes in AT force and power) to better elucidate the mechanical determinants of the walk-to-run transition. Kinematics, kinetic and ultrasound data of the gastrocnemius medialis (GM) were investigated during overground walking and running at speeds ranging from 5-9 km·h-1. AT and GM MTU force and power were calculated during the propulsive phase; the ankle joint function indexes (damper, strut, spring and motor) were obtained using a combination of kinetic and kinematic data. AT force was larger in running at speeds > 6.5 km/h. The contribution of AT to the total power provided by the GM MTU was significantly larger in running at speeds > 7.5 km/h. The spring and strut indexes of the ankle were significantly larger in running at speeds > 7.5 km/h. These data suggest that the walk-to-run transition could (at least partially) be explained by the need to preserve AT mechanical behaviour and the ankle spring function

The effect of a secondary task on kinematics during turning in Parkinson's disease with mild to moderate impairment

Patients with Parkinson's disease (PD) show typical gait asymmetries. These peculiar motor impairments are exacerbated by added cognitive and/or mechanical loading. However, there is scarce literature that chains these two stimuli. The aim of this study was to investigate the combined effects of a dual task (cognitive task) and turning (mechanical task) on the spatiotemporal parameters in mild to moderate PD. Participants (nine patients with PD and nine controls (CRs)) were evaluated while walking at their self-selected pace without a secondary task (single task), and while repeating the days of the week backwards (dual task) along a straight direction and a 60 degrees and 120 degrees turn. As speculated, in single tasking, PD patients preferred to walk with a shorter stride length (p< 0.05) but similar timing parameters, compared to the CR group; in dual tasking, both groups walked slower with shorter strides. As the turn angle increased, the speed will be reduced (p< 0.001), whereas the ground-foot contact will become greater (p< 0.001) in all the participants. We showed that the combination of a simple cognitive task and a mechanical task (especially at larger angles) could represent an important training stimulus in PD at the early stages of the pathology

West syndrome followed by juvenile myoclonic epilepsy: a coincidental occurrence?

West syndrome followed by juvenile myoclonic epilepsy: a coincidental occurrence? is an age-dependent epilepsy with onset peak in the first year of life. According to the ILAE classification, the etiology of WS could be symptomatic or cryptogenic. An idiopathic etiology was considered too. In literature, there was never previously described a transition from WS to JME. Methods: The proband, (male) was referred to our Department at the age of 8 months because he showed clusters of symmetric spasms. Interictal EEG recording displayed an hypsarrhythmic pattern. The clinical and EEG data suggested WS diagnosis. At 1 year of age increasing long and thick hair in both elbow regions was observed. This picture suggested an additional diagnosis of \u201cHairy Elbows Syndrome\u201d. During follow-up, the neurological examination was normal and the EEGs showed age appropriate background activity without abnormalities until 12 years of age, when he experienced some clusters of bilateral, arrhythmic myoclonic jerks, synchronous with generalized discharges of 4Hz spike-wave. This features suggested JME diagnosis. Results: We report a child with WS with onset at 8 months of age followed by JME at 12 years of age. This unusual evolution, never reported previously, suggests that both seizure types may share some pathophysiological processes genetically determined, which produce a susceptibility to seizure. Conclusion: This case documents a new transition type from WS to JME and improves the knowledge about the spectrum of seizure susceptibility. These findings suggest that some genes other than those currently known and nonconventional genetic factors can play a role in seizure predisposition

A paradigmatic autistic phenotype associated with loss of PCDH11Y and NLGN4Y genes

Background: Most studies relative to Y chromosome abnormalities are focused on the sexual developmental disorders. Recently, a few studies suggest that some genes located on Y chromosome may be related to different neurodevelopment disorders. Case presentation: We report a child with sexual developmental disorder associated with a peculiar phenotype characterized by severe language impairment and autistic behaviour associated with a mosaicism [45,X(11)/46,XY(89)] and a partial deletion of the short and long arm of Y chromosome (del Yp11.31q11.23) that also involves the loss of both PCDH11Y and NLGN4Y genes. To our knowledge no study has ever reported the occurrence of the lack of both PCDH11Y and NLGN4Y located in the Y chromosome in the same patient. Conclusions: We hypothesized a functional complementary role of PCDH11Y and NLGN4Y within formation/maturation of the cerebral cortex. The impairment of early language development may be mainly related to the lack of PCDH11Y that underlies the early language network development and the later appearance of the autistic behaviour may be mainly related to deficit of inhibitory glicinergic neurotransmission NLGN4Y-linked

Autism spectrum disorder in Italy: demand for an integrated epidemiological surveillance system.

Autism spectrum disorder (ASD) is a complex neurodevelopmental syndrome of emerging public health concern, according to a documented significant increase of diagnosed cases of ASD in Europe and USA. In Italy, actually, it is not possible to estimate at national level a reliable ASD occurrence by using existing health and scholastic data flows. The lack of information has implications on social and healthcare services dedicated to subjects affected by ADS. The database of the Italian institute in charge of social and security assistance was accessed at the provincial level to investigate the ASD cases occurred in the Palermo province. The official reports of all subjects visited in 2013 by INPS physicians were analyzed by using an automatic software and diagnosis consistent with ASD were ex- tracted and flagged. Our findings support the choice of alternative use of INPS administrative database in order to define a reliable ASD occurrence estimate as first step to develop an integrated epidemiological surveillance system on AS

Commonalities and distinctions between two neurodevelopmental disorder subtypes associated with SCN2A and SCN8A variants and literature review

This study was aimed to analyze the commonalities and distinctions of voltage-gated sodium channels, Nav1.2, Nav1.6, in neurodevelopmental disorders. An observational study was performed including two patients with neurodevelopmental disorders. The demographic, electroclinical, genetic, and neuropsychological characteristics were analyzed and compared with each other and then with the subjects carrying the same genetic variants reported in the literature. The clinical features of one of them argued for autism spectrum disorder and developmental delay, the other for intellectual disability, diagnoses confirmed by the neuropsychological assessment. The first patient was a carrier of SCN2A (p.R379H) variant while the second was carrier of SCN8A (p.E936K) variant, both involving the pore loop of the two channels. The results of this study suggest that the neurodevelopmental disorders without overt epilepsy of both patients can be the consequences of loss of function of Nav1.2/Nav1.6 channels. Notably, the SCN2A variant, with an earlier expression timing in brain development, resulted in a more severe phenotype as autism spectrum disorder and developmental delay, while the SCN8A variant, with a later expression timing, resulted in a less severe phenotype as intellectual disability

Variable phenotype in 17q12 microdeletions: Clinical and molecular characterization of a new case

Microdeletions of 17q12 including the hepatocyte nuclear factor 1 beta (HNF1B) gene, as well as point mutations of this gene, are associated with the Renal Cysts and Diabetes syndrome (RCAD, OMIM 137920) and genitourinary alterations. Also, microdeletions encompassing HNF1B were identified as a cause of Mayer\u2013Rokitansky\u2013 K\ufcster\u2013Hauser Syndrome (MRKH, OMIM277000) in females and, recently,were associatedwith intellectual disability, autistic features, cerebral anomaly and facial dysmorphisms. In this report, we describe a boywith a deletion in 17q12 region detected by SNP array, encompassing the HNF1B gene, that showed dysmorphic features, intellectual disability (ID), serious speech delay and autistic features. In addition, obesity was observed. In order to study the parental origin of the rearrangement, we analyzed selected SNPs in the deleted area in the patient and his parents, showing Mendelian incompatibilities suggesting a de novo deletion on the chromosome of maternal origin. Our case confirms the incomplete penetrance and variable expressivity of this deletion, its complex clinical variability, and strengthens the evidence that ID and stereotyped behaviors may be part of the phenotypic spectrum characterizing the affected patients. Also, it is useful to further delineate the phenotypes associated to the deletion being the first case in which obesity has been documented. We present a genotype\u2013phenotype correlation discussing the possible role of some genes, encompassed by the deletion, in the etiology of the observed phenotypes

A novel KCNQ3 mutation in familial epilepsy with focal seizures and intellectual disability

Mutations in the KCNQ2 gene encoding for voltage-gated potassium channel subunits have been found in patients affected with early-onset epilepsies with wide phenotypic expression, ranging from Benign Familial Neonatal Seizures (BFNS) to epileptic encephalopathy with cognitive impairment, drug resistance, and characteristic EEG and neuroradiological features. By contrast, only few KCNQ3 mutations have been rarely described, mostly in patients with typical BFNS. We report clinical, genetic, and functional data from a family in which early-onset epilepsy and neurocognitive deficits segregated with a novel mutations in KCNQ3 (c.989G>T; p.R330L). Electrophysiological studies in mammalian cells revealed that incorporation of KCNQ3 R330L mutant subunits impaired channel function, suggesting a pathogenetic role for such mutation. The degree of functional impairment of channels incorporating KCNQ3 R330L subunits was larger than that of channels carrying another KCNQ3 mutation affecting the same codon but leading to a different amino acid substitution (p.R330C), previously identified in two families with typical BFNS. These data suggest that mutations in KCNQ3, similarly to KCNQ2, can be found in patients with more severe phenotypes including intellectual disability, and that the degree of the functional impairment caused by mutations at position 330 in KCNQ3 may contribute to clinical disease severity