Search results for "foot"
showing 10 items of 737 documents
TCTN3 Mutations Cause Mohr-Majewski Syndrome
2012
Orofaciodigital syndromes (OFDSs) consist of a group of heterogeneous disorders characterized by abnormalities in the oral cavity, face, and digits and associated phenotypic abnormalities that lead to the delineation of 13 OFDS subtypes. Here, by a combined approach of homozygozity mapping and exome ciliary sequencing, we identified truncating TCTN3 mutations as the cause of an extreme form of OFD associated with bone dysplasia, tibial defect, cystic kidneys, and brain anomalies (OFD IV, Mohr-Majewski syndrome). Analysis of 184 individuals with various ciliopathies (OFD, Meckel, Joubert, and short rib polydactyly syndromes) led us to identify four additional truncating TCTN3 mutations in un…
The role of the results of functional tests and psychological factors on prediction of injuries in adolescent female football players
2021
Football is a popular sport among adolescent females. Given the rate of injuries in female footballers, identifying factors that can predict injuries are important. These injuries are often caused by complex reasons. The aim of this study was to investigate if the combination of demographic (age, number of training and match play hours/week), psychosocial (perceived stress, adaptive coping strategies) and physiological factors (functional performance) can predict a traumatic injury in adolescent female footballers. A cohort consisting of 419 female football players aged 13–16 years was established. Baseline questionnaires covered potential risk factors for sport injuries, and measurem…
A recurrent TP63 mutation causing EEC3 and Rapp–Hodgkin syndromes
2016
The ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3; OMIM #604292), the Rapp-Hodgkin syndrome (RHS), and various other syndromes are caused by mutations in the TP63 gene, which encodes a p53-like transcription factor. Here, we report on a woman aged 37 years and her daughter aged 3 years with the previously reported c.1028G>A (p.Arg343Gln) mutation in exon 8 of TP63. The mother lacked ectrodactyly, indicating a diagnosis of RHS, whereas the girl presented with all three major features (ectrodactyly, ectodermal dysplasia, clefting) and different minor features (including small and brittle nails, and recurrent conjunctivitis believed to be because of stenotic and blo…
Distribution of a special subset of keratinocytes characterized by the expression of cytokeratin 9 in adult and fetal human epidermis of various body…
1987
Biochemical analyses have previously shown that palmar and plantar epidermis, unlike the epidermis of other body sites, contain cytokeratin 9 (Mr 64,000), an unusually large acidic (type I) cytokeratin. Guinea-pig antibodies that specifically and selectively react with bovine and human cytokeratin 9 were used for the immunocytochemical identification of cytokeratin 9 in adult and fetal human epidermis from various body sites. In the epidermis of palms and soles, antibodies against cytokeratin 9 stained a high proportion of the keratinocytes in suprabasal locations. These suprabasal cytokeratin-9-positive keratinocytes were often arranged in vertical columns and concentrated around intraepid…
Initial psychometric testing of the coach-adapted version of the empowering and disempowering motivational climate questionnaire: A Bayesian approach.
2020
The present study examined the psychometric properties of the coach-adapted version of the Empowering and Disempowering Motivational Climate Questionnaire (EDMCQ) using Bayesian structural equation modelling (BSEM). The sample included 780 (
How the Context Matters. Literal and Figurative Meaning in the Embodied Language Paradigm
2014
The involvement of the sensorimotor system in language understanding has been widely demonstrated. However, the role of context in these studies has only recently started to be addressed. Though words are bearers of a semantic potential, meaning is the product of a pragmatic process. It needs to be situated in a context to be disambiguated. The aim of this study was to test the hypothesis that embodied simulation occurring during linguistic processing is contextually modulated to the extent that the same sentence, depending on the context of utterance, leads to the activation of different effector-specific brain motor areas. In order to test this hypothesis, we asked subjects to give a moto…
Soccer players' fitting perception of different upper boot materials.
2016
[EN] The present study assessed the influence of upper boot materials on fitting perception. Twenty players tested three soccer boots only differing in the upper boot material (natural calf leather, natural kangaroo leather and synthetic leather). Players reported fitting perception and preference on specific foot areas using a perceived fitting scale. Ratings were averaged for every foot area. Repeated measures ANOVA was used to analyze the differences between boots. The kangaroo leather boots were perceived tighter and closer to the preferred fitting in general fitting, metatarsals area and instep area. The synthetic leather boots were perceived as the loosest and as the most distant boot…
Localized crusted scabies in the acquired immunodeficiency syndrome
1992
Summary Crusted scabies (CrS) is an uncommon occurrence among patients with AIDS. Indeed to date only five cases have been described, all with widespread lesions. A case of localized CrS appearing as a yellowish and crusted plaque on the second right toe is reported in a woman with AIDS. Scraping off the verrucous surface, as well as punch-biopsy revealed many mites within the horny layer. The infestation is related to the cutaneous immune response and thus CrS should be considered an opportunistic infestation in AIDS. The importance of the early diagnosis of CrS in order to prevent disseminated lesions and involvement of other health-care workers is underlined.
Impact Of Chronic Foot Pain Related Quality Of Life : A Retrospective Case-Control Study
2022
Clinical trial [Abstract] Background: Chronic foot pain (CFP) is a widespread condition worldwide; however, few studies that relate CFP and foot health-related quality of life have been reported. Objective: The aim of this study was to describe the impact of foot health and health in general in a sample of adult people with CFP compared with a control group. Study design: This study was designed as a retrospective case-control study. Setting: Podiatric section of a care center. Methods: Two hundred adults were included in the study. Patients were divided into CFP patient (n = 100) and control groups (n = 100). All of them regularly attended a private podiatric clinic to take care of their f…
Initiating running barefoot: Effects on muscle activation and impact accelerations in habitually rearfoot shod runners
2016
Runners tend to shift from a rearfoot to a forefoot strike pattern when running barefoot. However, it is unclear how the first attempts at running barefoot affect habitually rearfoot shod runners. Due to the inconsistency of their recently adopted barefoot technique, a number of new barefoot-related running injuries are emerging among novice barefoot runners. The aim of this study was therefore to analyse the influence of three running conditions (natural barefoot [BF], barefoot with a forced rearfoot strike [BRS], and shod [SH]) on muscle activity and impact accelerations in habitually rearfoot shod runners. Twenty-two participants ran at 60% of their maximal aerobic speed while foot strik…