Search results for "Legs"

To Swim or Not to Swim: Potential Transmission of Balaenophilus manatorum (Copepoda: Harpacticoida) in Marine Turtles

2017

Species of Balaenophilus are the only harpacticoid copepods that exhibit a widespread, obligate association with vertebrates, i.e., B. unisetus with whales and B. manatorum with marine turtles and manatees. In the western Mediterranean, juveniles of the loggerhead sea turtle, Caretta caretta are the only available hosts for B. manatorum, which has been found occurring at high prevalence (>80%) on them. A key question is how these epibionts are transmitted from host to host. We investigated this issue based on experiments with live specimens of B. manatorum that were cultured with turtle skin. Specimens were obtained from head-started hatchlings of C. caretta from the western Mediterranean. …

A TRAPPC6B splicing variant associates to restless legs syndrome

2016

Abstract INTRODUCTION: RLS is a common movement disorders with a strong genetic component in its pathophysiology, but, up to now, no causative mutation has been reported. METHODS: We re-evaluated the previously described RLS2 family by exome sequencing. RESULTS: We identified fifteen variations in the 14q critical region. The c.485G > A transition of the TRAPPC6B gene segregates with the RLS2 haplotype, is absent in 200 local controls and is extremely rare in 12988 exomes from the Exome Variant Server (EVS). This variant alters a splicing site and hampers the normal transcript processing by promoting exon 3-skipping as demonstrated by minigene transfection and by patient transcripts. CON…

Restless legs syndrome: Epidemiological and clinicogenetic study in a South Tyrolean population isolate.

2006

Genetic contributions to restless legs syndrome (RLS) have been consistently recognized from population and family studies. To determine the clinical and genetic features of RLS in a population isolate and explore linkage to three previously described susceptibility loci on chromosomes 12q, 14q, and 9p, respectively, an isolated population in the South Tyrolean Alps was identified and 530 adults participated in the study. Using a two-step strategy, 47 patients with idiopathic RLS were ascertained. The prevalence in the population was 8.9%. Twenty-eight patients (59.6%) had at least one affected first-degree relative and were classified as hereditary cases. In a single extended pedigree, lin…

Association Between Restless Legs Syndrome and Adult ADHD in a German Community-Based Sample

2015

Objective: Previous research in clinical samples indicated a significant association between ADHD and restless legs syndrome (RLS). The present study examined the association between adult ADHD and RLS in the German population. Method: Self-rating instruments to assess RLS, childhood ADHD, and adult ADHD were administered to a community-based sample ( N = 1,632). In addition, current depression and anxiety, sleep disturbances, weight, and height were assessed by self-report. Results: Adult ADHD was associated with statistically significant increases in the odds of meeting diagnostic criteria for RLS even when adjusting for potential confounding variables such as weight (odds ratio [OR] = 3…

Fatigue in multiple sclerosis is closely related to sleep disorders: a polysomnographic cross-sectional study.

2011

Background: Sleep disorders can cause tiredness. The relationship between sleep disorders and fatigue in patients with multiple sclerosis (MS) has not yet been investigated systematically. Objective: To investigate the relationship between fatigue and sleep disorders in patients with MS. Methods: Some 66 MS patients 20 to 66 years old were studied by overnight polysomnography. Using a cut-off point of 45 in the Modified Fatigue Impact Scale (MFIS), the entire cohort was stratified into a fatigued MS subgroup ( n = 26) and a non-fatigued MS subgroup ( n = 40). Results: Of the fatigued MS patients, 96% ( n = 25) were suffering from a relevant sleep disorder, along with 60% of the non-fatigue…

Documentos escogidos del Archivo de la Casa de Alba

Antiquitates Valentinae / Francesco Alighieri

1537

Sign.: a-e8, A-B8, C4 F. corresponents a les sign. A1 i C4 en bl.

Antiquitates Valentinae

Sign.: a-e8, A-B8, C4 F. corresponents a les sign. A1 i C4 en bl

A test of the effort equalization hypothesis in children with cerebral palsy who have an asymmetric gait.

2022

Healthy people can walk nearly effortlessly thanks to their instinctively adaptive gait patterns that tend to minimize metabolic energy consumption. However, the economy of gait is severely impaired in many neurological disorders such as stroke or cerebral palsy (CP). Moreover, self-selected asymmetry of impaired gait does not seem to unequivocally coincide with the minimal energy cost, suggesting the presence of other adaptive origins. Here, we used hemiparetic CP gait as a model to test the hypothesis that pathological asymmetric gait patterns are chosen to equalize the relative muscle efforts between the affected and unaffected limbs. We determined the relative muscle efforts for the ank…

Management of orphan symptoms: ESMO Clinical Practice Guidelines for diagnosis and treatment†

2020

### Highlights There is no clear definition of orphan symptoms. There is a group of symptoms that are seldom evaluated in most symptom assessment tools which can be considered as orphan symptoms.1 These are generally prevalent symptoms that are unaddressed in clinical practice, yet often not reported by the patients or by healthcare professionals.2 Orphan symptoms may be defined as symptoms not regularly assessed in clinical practice, and consequently little studied and not properly treated. No epidemiological or clinical studies generally exist to gauge the prevalence of the symptoms chosen; nevertheless, these symptoms are distressing for patients and their families. Orphan symptoms remai…