Search results for "Sab"
showing 10 items of 3756 documents
Photobiomodulation using high- or low-level laser irradiations in patients with lumbar disc degenerative changes: disappointing outcomes and remarks
2018
Jakub Taradaj,1,2 Katarzyna Rajfur,3 Barbara Shay,2 Joanna Rajfur,3 Kuba Ptaszkowski,4 Karolina Walewicz,3 Robert Dymarek,5 MirosÅaw Sopel,5 Joanna RosiÅczuk5 1Department of Physiotherapy Basics, Academy of Physical Education, Katowice, Poland; 2College of Rehabilitation Sciences, University of Manitoba, Winnipeg, MB, Canada; 3Public Higher Medical Professional School, Opole, Poland; 4Department of Clinical Biomechanics and Physiotherapy in Motor System Disorders, Wroclaw Medical University, Wroclaw, Poland; 5Department of Nervous System Diseases, Wroclaw Medical University, Wroclaw, Poland Background: Laser therapy seems to be a beneficial physical agent for chronic low back pain (LBP), …
De novo 15q21.1q21.2 deletion identified through FBN1 MLPA and refined by 244K array-CGH in a female teenager with incomplete Marfan syndrome
2010
International audience; Interstitial deletions involving the 15q21.1 band are very rare. Only 4 of these cases have been studied using molecular cytogenetic techniques in order to confirm the deletion of the whole FBN1 gene. The presence of clinical features of the Marfan syndrome (MFS) spectrum associated with mental retardation has been described in only 2/4 patients. Here we report on a 16-year-old female referred for suspicion of MFS (positive thumb and wrist sign, scoliosis, joint hyperlaxity, high-arched palate with dental crowding, dysmorphism, mitral insufficiency with dystrophic valve, striae). She had therefore 3 minor criteria according to the Ghent nosology. She also had speech …
Gender-related differences in psychometric properties of WHO Disability Assessment Schedule 2.0
2019
Objective of this study was to investigate the gender-related differential item function of 12-item WHODAS 2.0 amongst patients with chronic musculoskeletal pain. This was a cross-sectional survey study among 1,988 patients at a university Physical and Rehabilitation Medicine outpatient clinic. To assess DIF, WHODAS 2.0 items were dichotomized as `none’ rated by respondents as `0’ versus `any limitation’ rated as `1,2,3 or 4’. The item response theory analysis was used to define discrimination and difficulty parameters of a questionnaire. The probit logistic regression was used to test uniformity of DIF between gender groups. The results of DIF analysis were presented and evaluated graphica…
Able or unable to work? : Life trajectory after severe occupational injury
2018
Purpose: To study the probabilities and permanence of return to work, inability to work and rehabilitation, and to explore the connection between these life situations and later working after a sev...
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…