Search results for "DAC"
showing 10 items of 1529 documents
Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications
2020
Heterozygous activating variants in platelet-derived growth factor, beta (PDGFRB) are associated with phenotypes including Kosaki overgrowth syndrome (KOGS), Penttinen syndrome and infantile myofibromatosis (IM). Here, we present three new cases of KOGS, including a patient with a novel de novo variant c.1477A > T p.(Ser493Cys), and the oldest known individual age 53 years. The KOGS phenotype includes characteristic facial features, tall stature, scoliosis, hyperelastic thin skin, lipodystrophy, variable intellectual and neurological deterioration, and abnormalities on brain imaging. Long-term outcome is unknown. Our cases confirm the phenotypic spectrum includes progressive flexion contrac…
Cyclical changes of cortical excitability and metaplasticity in migraine: evidence from a repetitive transcranial magnetic stimulation study.
2013
The primary brain dysfunctions leading to the onset of a migraine attack remain largely unknown. Other important open questions concern the mechanisms of initiation, continuation, and termination of migraine pain, and the changes in brain function underlying migraine transformation. Brief trains of high-frequency repetitive transcranial magnetic stimulation (rTMS), when applied to the primary motor cortex at suprathreshold intensity (⩾120% of resting motor threshold [RMT]), elicit in healthy subjects a progressive, glutamate-dependent facilitation of the motor evoked potentials (MEP). Conversely, in conditions of increased cortical excitability, the rTMS trains induce inhibitory MEP respons…
Evaluation of the prognostic role of tumour-associated macrophages in newly diagnosed classical hodgkin lymphoma and correlation with early FDG-PET a…
2017
In Hodgkin Lymphoma (HL), about 20% of patients still have relapsed/refractory disease and late toxic effects rate continue to rise with time. 'Early FDG-PET' and tissue macrophage infiltration (TAM) emerged as powerful prognostic predictors. The primary endpoint was to investigate the prognostic role of both early FDG-PET and TAM; the secondary endpoint was to test if early FDG-PET positivity could correlate with high TAM score. A cohort of 200 HL patients was analysed. Induction treatment plan consisted of two to six courses of ABVD and, if indicated, involved field radiation therapy. All patients repeated CT scan and FDG-PET after two cycles and after the completion of therapy. TAM in di…
Propiedades psicométricas de la Escala de Quejas Somáticas en niños y adultos españoles
2015
The aim of this study was to analyse the psychometric properties of the Somatic Complaints List (SCL) in Spanish child and adult populations. This instrument assesses the frequency with which people experience and feel pain such as stomach ache and headache, among others. It has been validated in different countries and languages (Dutch, English, and Persian), showing adequate psychometric properties. Nevertheless, it has never been validated in a Spanish context. Method: For the adaptation and validation, we used two different samples: 1423 children, age ranging from 8 to 12 years old, selected from 12 primary and secondary schools at 7 locations in the Valencian Community, Spain (age = 9.…
Effect of age in the ciliary muscle during accommodation: Sectorial analysis
2017
Abstract Purpose To compare changes in the ciliary muscle area at different sectors between pre-presbyopic and presbyopic eyes during accommodation by means of an anterior segment optical coherence tomographer (OCT). Methods The anterior ciliary muscle area was measured in 20 healthy and phakic pre-presbyopic eyes, whose mean age was 23.3 ± 4.4 years, and in 20 healthy and phakic presbyopic eyes, whose mean age was 46.5 ± 5.2 years. The relative change in the cross-sectional area of the ciliary muscle was measured at the nasal, inferior, and temporal sectors between 0 and −3 D of vergence, in −1 D step. A linear model was used to assess the correlation of each eye parameter with the accommo…
The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients
2012
International audience; The 2q37 locus is one of the most commonly deleted subtelomeric regions. Such a deletion has been identified in >100 patients by telomeric fluorescence in situ hybridization (FISH) analysis and, less frequently, by array-based comparative genomic hybridization (array-CGH). A recognizable ‘2q37-deletion syndrome’ or Albright’s hereditary osteodystrophy-like syndrome has been previously described. To better map the deletion and further refine this deletional syndrome, we formed a collaboration with the Association of French Language Cytogeneticists to collect 14 new intellectually deficient patients with a distal or interstitial 2q37 deletion characterized by FISH and …
Treatment of tension-type headache with articulatory and suboccipital soft tissue therapy: A double-blind, randomized, placebo-controlled clinical tr…
2013
This study researches the effectiveness of two manual therapy treatments focused on the suboccipital region for tension-type headache. A randomized double-blind clinical trial was conducted over a period of four weeks with a follow-up at one month. Eighty-four patients with a mean age of 39.7 years (SD 11.4) with tension-type headache were assigned to 4 groups which included the following manual therapy treatment: suboccipital soft tissue inhibition; occiput-atlas-axis global manipulation; combination of both techniques; and a control group. The primary assessment consisted of collecting socio-demographic data and headache characteristics in a one-month base period, data such as age, gender…
Types of Triggers in Migraine - Factor Structure of the Headache Triggers Sensitivity and Avoidance Questionnaire and Development of a New Short Form…
2020
OBJECTIVE: To examine the factor structure of the Headache Triggers Sensitivity and Avoidance Questionnaire (HTSAQ) and its German version (HTSAQ-G), in order to identify potential different types of triggers. Furthermore, a short form of the questionnaire was developed. BACKGROUND: The HTSAQ includes 24 of the most commonly reported headache triggers (eg, stress, odors, lack of sleep). Both the HTSAQ and HTSAQ-G appeared to be reliable and valid measures of sensitivity to and avoidance of headache triggers. METHODS: In a cross-country collaboration, data from 2 cross-sectional studies including N = 391 individuals diagnosed with migraine from Australia (n = 222) and Germany (n = 169) were …
Determination of psychosocial factors in cluster headache - construction and psychometric properties of the Cluster Headache Scales (CHS).
2020
Background Cluster headache (CH) is clinically associated with considerable psychosocial burden. However, instruments to assess and characterize psychosocial factors in cluster headache more specifically are lacking. This study aimed to develop a self-report questionnaire, which assesses the broadest possible spectrum of psychosocial factors in cluster headache, the Cluster Headache Scales (CHS). Method Items of the Cluster Headache Scales were constructed based on a literature review and semi-structured interviews with several experts (including persons with cluster headache). A cross-sectional online survey was conducted to determine the psychometric properties and the factor structure of…
Severe meningo-/encephalitis after daclizumab therapy for multiple sclerosis.
2019
Background: Daclizumab is a monoclonal antibody that binds the high-affinity interleukin-2 receptor and was approved for the treatment of relapsing multiple sclerosis. Due to severe inflammatory brain disorders, the approval was suspended in March 2018. Objective and Methods: This retrospective cohort study summarizes clinical, laboratory, radiological, and histological findings of seven patients who developed meningo-/encephalitis after daclizumab therapy. Results: Patients presented with encephalitis and/or meningitis and suffered from systemic symptoms such as fever (5/7), exanthema (5/7), or gastrointestinal symptoms (4/7). Secondary autoimmune diseases developed. Blood analysis reveale…