Search results for "disability"
showing 10 items of 989 documents
Dyke-Davidoff-Masson syndrome: case report of fetal unilateral ventriculomegaly and hypoplastic left middle cerebral artery
2013
Prenatal ultrasonographic detection of unilateral cerebral ventriculomegaly arises suspicion of pathological condition related to cerebrospinal fluid flow obstruction or cerebral parenchimal pathology. Dyke-Davidoff-Masson syndrome is a rare condition characterized by cerebral hemiatrophy, calvarial thickening, skull and facial asymmetry, contralateral hemiparesis, cognitive impairment and seizures. Congenital and acquired types are recognized and have been described, mainly in late childhood, adolescence and adult ages. We describe a female infant with prenatal diagnosis of unilateral left ventriculomegaly in which early brain MRI and contrast enhanced-MRI angiography, showed cerebral left…
Subgrouping factors influencing migraine intensity in women: A semi-automatic methodology based on machine learning and information geometry
2019
[EN] Background Migraine is a heterogeneous condition with multiple clinical manifestations. Machine learning algorithms permit the identification of population groups, providing analytical advantages over other modeling techniques. Objective The aim of this study was to analyze critical features that permit the differentiation of subgroups of patients with migraine according to the intensity and frequency of attacks by using machine learning algorithms. Methods Sixty-seven women with migraine participated. Clinical features of migraine, related disability (Migraine Disability Assessment Scale), anxiety/depressive levels (Hospital Anxiety and Depression Scale), anxiety state/trait levels (S…
Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary toVPS13Bmutations
2013
Over one hundred VPS13B mutations are reported in Cohen syndrome (CS). Most cases exhibit a homogeneous phenotype that includes intellectual deficiency (ID), microcephaly, facial dysmorphism, slender extremities, truncal obesity, progressive chorioretinal dystrophy, and neutropenia. We report on a patient carrying two VPS13B splicing mutations with an atypical phenotype that included microcephaly, retinopathy, and congenital neutropenia, but neither obesity nor ID. RNA analysis of the IVS34+2T_+3AinsT mutation did not reveal any abnormal splice fragments but mRNA quantification showed a significant decrease in VPS13B expression. RNA sequencing analysis up- and downstream from the IVS57+2T>C…
Observational multicentric study on chronic sciatic pain: clinical data from 44 Italian centers.
2017
OBJECTIVE: To provide informa- tion on the clinical presentation of sciatic neu- ropathy and its management in a real-world set- ting, and to analyze the effects of a multimodal approach based on the association of physical and pharmacological therapy. PATIENTS AND METHODS: A multicentric ob- servational prospective study was conducted in 44 Italian tertiary centers specialized in Physical Medicine and Rehabilitation, Orthopedics, Neu- rology, Neurosurgery, and Rheumatology. To de- velop a shared management of LPB with sciat- ica, a dedicated clinical record was proposed to collect data about diagnosis, treatment, and outcomes. Pain, disability, and quality of life were recorded trough vali…
Frovatriptan versus almotriptan for acute treatment of menstrual migraine: analysis of a double-blind, randomized, cross-over, multicenter, Italian, …
2012
The objective of the study was to compare the efficacy and safety of frovatriptan and almotriptan in women with menstrually related migraine (IHS Classification of Headache disorders) enrolled in a multicenter, randomized, double-blind, cross-over study. Patients received frovatriptan 2.5 mg or almotriptan 12.5 mg in a randomized sequence: after treating 3 episodes of migraine in no more than 3 months with the first treatment, the patient was switched to the other treatment. 67 of the 96 female patients of the intention-to-treat population of the main study had regular menstrual cycles and were thus included in this subgroup analysis. 77 migraine attacks classified as related to menses were…
X-inactivation pattern in three cases of X/autosome translocation.
1978
We describe an X/15 translocation which was balanced in a phenotypically normal mother [46,X,t(X;15)(p22;q15)] and unbalanced in her phenotypically abnormal daughter [46,X,der(X),t(X;15)(p22;q15)mat]. A third case involves a balanced X/21 translocation in a girl with a multiple congenital anomaly-retardation syndrome [46,X,t(X;21)(p11;p11?)]. 5-BrdU acridine orange banding on lymphocytes revealed late replication of the normal X chromosome in the mother and of the normal or abnormal X chromosome in the two other cases. Our findings are only partially consistent with previous observations. All X-inactivation patterns can be explained by random inactivation and subsequent selection against sp…
Effect of childhood developmental coordination disorder on adulthood physical activity; Arvo Ylppö longitudinal study
2022
Publisher Copyright: © 2022 The Authors. Scandinavian Journal of Medicine & Science In Sports published by John Wiley & Sons Ltd. Individuals at risk of Developmental Coordination Disorder (DCD) have low levels of physical activity in childhood due to impaired motor competence; however, physical activity levels in adulthood have not been established. This study sought to determine the impact of DCD risk on physical activity levels in adults using accelerometry measurement. Participants (n = 656) from the Arvo Ylppö Longitudinal Study cohort had their motor competence assessed at the age of five years, and their physical activity quantified via device assessment at the age of 25 years. Betwe…
Facial disability index (FDI): adaptation to Spanish, reliability and validity.
2011
Objectives: To adapt to Spanish the facial disability index (FDI) described by VanSwearingen and Brach in 1995 and to assess its reliability and validity in patients with facial nerve paresis after parotidectomy. Study Design: The present study was conducted in two different stages: a) cross-cultural adaptation of the questionnaire and b) cross-sectional study of a control group of 79 Spanish-speaking patients who suffered facial paresis after superficial parotidectomy with facial nerve preservation. The cross-cultural adaptation process comprised the following stages: (I) initial translation, (II) synthesis of the translated document, (III) retro-translation, (IV) review by a board of expe…
Reliability and Validity of a New Objective Tool for Low Back Pain Functional Assessment
2011
Study design Classification and functional assessment model for nonspecific low back pain (LBP) patients and controls on the basis of kinematic analysis parameters. Objective Develop a logistic regression model using kinematic analysis variables to (1) discriminate between LBP patients and controls and (2) obtain objective parameters for LBP functional assessment. Summary of background data Functional assessment of spinal disorders has been carried out traditionally by means of subjective scales. Objective functional techniques have been developed, which usually involve the application of external loads or the analysis of highly standardized trunk flexion-extension maneuvers. Few studies ha…